Nomenclature: Cav2.1

Family: Voltage-gated calcium channels

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 

Contents

Gene and Protein Information
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 24 0 2512 19p13.2-p13.1 CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Mouse 24 0 2368 8 C3 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Rat 24 0 2368 19q11 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Previous and Unofficial Names
α1A
rbA-I (rat)
BI-1
BI-2 (rabbit)
Cav2.1
Q-type
P-type
α1a
CACNL1A4
SCA6
MHP1
MHP
EA2
APCA
HPCA
FHM
BccA1
rbA-1
BI
Calcium channel alpha 1A
RBA-I
brain calcium channel 1
brain calcium channel I
brain class A
calcium channel, L type, alpha-1 polypeptide, isoform 4
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
calcium channel, voltage-dependent, alpha 1A subunit
voltage-dependent P/Q-type calcium channel subunit alpha-1A
voltage-gated calcium channel subunit alpha Cav2.1
alpha1A
Ccha1a
nmf352
la
tg
rkr
Database Links
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
OMIM
Orphanet Gene
PharmGKB Gene
PhosphoSitePlus
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProtKB
Wikipedia
Associated Proteins
Heteromeric Pore-forming Subunits
Name References
Not determined
Auxiliary Subunits
Name References
β1-4 43
α 43
Other Associated Proteins
Name References
Not determined
Functional Characteristics
Moderate voltage-activated, moderate inactivation
Ion Selectivity and Conductance
Species:  Human
Rank order:  Ba2+ [16.3 - 19.6 (median: 19.5) pS]
References:  22,80,92
Species:  Mouse
Rank order:  Ba2+ [9.0 - 17.0 (median: 14.0) pS]
References:  14
Species:  Rat
Rank order:  Ba2+ [16.5 - 17.2 pS]
References:  5
Ion Selectivity and Conductance Comments
Murine channels in cerebellar purkinje cells were found to have 3 distinct conductance levels at 9, 14 and 17pS [14].
Voltage Dependence
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  9.5 0.6 – 2.2 23 HEK 293 cells. Human
Inactivation  -17.0 690.0 – 148.0 23
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -10.1 – 2.1 (median: -4.1) 3.3 5,75 Xenopus laevis oocyte Rat
Inactivation  -45.3 – -1.6 (median: -29.2) - 5,75
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -16.2 – -4.3 (median: -9.0) 0.79 42,53 Neurons (neostriatal, cortical and mossy fibres) Rat
Inactivation  - 0.09 – 1000.0 42,53
Voltage Dependence Comments
The rates of Cav2.1 inactivation and V0.5,inact are differentially affected by co-expression with β1, β2, β3 and β4 subunits, as well as by alternative splicing of Cav2.1. Whole cell currents with slow P-type kinetics appear to be conducted by splice variants co-expressed with the β2 subunit. Whole cell currents with Q-type kinetics appear to be encoded by Cav2.1 co-expressed with and of the β1, β3 or β4 subunits [53,75].
Gating inhibitors
Key to terms and symbols Click column headers to sort
Ligand Sp. Action Affinity Units Concentration range (M) Holding voltage (mV) Reference
ω-agatoxin IIIA Rn - 9.3 pKd - -80.0 49,54
pKd 9.3 [49,54]
Holding voltage: -80.0 mV
ω-agatoxin IVB Rn - 8.5 pKd - -80.0 1
pKd 8.5 [1]
Holding voltage: -80.0 mV
kurtoxin Rn Antagonist 7.8 pEC50 - -80.0 66
pEC50 7.8 [66]
Holding voltage: -80.0 mV
ω-agatoxin IVA Rn - 6.8 – 8.7 pIC50 - -100.0 – -90.0 5,57
pIC50 6.8 – 8.7 [5,57]
Holding voltage: -100.0 – -90.0 mV
ω-grammotoxin SIA Rn Antagonist 6.7 – 7.1 (median: 6.7) pIC50 - Physiological 39,50
pIC50 6.7 – 7.1 (median: 6.7) [39,50]
Holding voltage: Physiological
Gating Inhibitor Comments
Alternative splicing of Cav2.1 alters sensitivity to ω-agatoxin IVA. Whole cell currents with Q-type pharmacology appear encoded by Cav splice variants containing Asp-Pro residues in the domain IV S3-S4 linker, while whole cell currents with P-type pharmacology appear encoded by Cav splice variants missing Asp-Pro residues in residues in domain IV S3-S4 linker. ω-agatoxin IVA exhibits ~10-fold difference in IC50 between P-type and Q-type channels [5].

ω-grammotoxin SIA causes a +110mV shift in the votlage dependance of Cav2.1 channels [50].

Notable Cav splice variants with physiological and/or pharmacological differences are found in refs [5,10,65,70,82].
Channel Blockers
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Affinity Units Concentration range (M) Holding voltage (mV) Reference
Ni2+ Rn - - - 1x10-4 - 1x10-3 -100.0 96
Conc range: 1x10-4 - 1x10-3 M [96]
Holding voltage: -100.0 mV
ω-PnTx3-3 Rn - - - 6x10-8 -80.0 41
Conc range: 6x10-8 M [41]
Holding voltage: -80.0 mV
ω-phonetoxin-IIA Rn - 9.2 pKd - -80.0 9
pKd 9.2 [9]
Holding voltage: -80.0 mV
DW13.3 Rn - 8.4 pEC50 - -100.0 76
pEC50 8.4 [76]
Holding voltage: -100.0 mV
ω-conotoxin MVIID Bt - 9.0 pIC50 - Physiological
pIC50 9.0
Holding voltage: Physiological
ω-conotoxin MVIIC Rn - 8.2 – 9.2 pIC50 2x10-6 - 5x10-6 Physiological 40
pIC50 8.2 – 9.2 (IC50 7x10-9 – 6x10-10 M) Conc range: 2x10-6 - 5x10-6 M [40]
Holding voltage: Physiological
ω-conotoxin CVIB Rn Antagonist 8.0 pIC50 - Physiological 40
pIC50 8.0 [40]
Holding voltage: Physiological
ω-conotoxin CVIC Rn Antagonist 7.5 pIC50 - Physiological 40
pIC50 7.5 [40]
Holding voltage: Physiological
PnTx-3-6 Rn - 6.6 pIC50 - -100.0 89
pIC50 6.6 [89]
Holding voltage: -100.0 mV
ω-conotoxin MVIIA Rn Antagonist 6.3 pIC50 - Physiological 40
pIC50 6.3 [40]
Holding voltage: Physiological
Cd2+ Oc - 6.0 – 6.3 pIC50 - -80.0 – -60.0
pIC50 6.0 – 6.3
Holding voltage: -80.0 – -60.0 mV
ω-conotoxin CVIA Rn Antagonist 6.1 pIC50 - Physiological 40
pIC50 6.1 [40]
Holding voltage: Physiological
ω-conotoxin GVIA Rn Antagonist 6.0 pIC50 - Physiological 40
pIC50 6.0 [40]
Holding voltage: Physiological
ω-conotoxin CVID Rn Antagonist 4.2 pIC50 - Physiological 40
pIC50 4.2 [40]
Holding voltage: Physiological
View species-specific channel blocker tables
Channel Blocker Comments
For further information and data on the role of ω-conotoxin MVIIC as a channel blocker of Cav2.1 see the following references: [5,24,51,75].
Tissue Distribution
Brain (hippocampus, entorhinal cortex, subiculum)
Species:  Human
Technique:  In situ hybridisation
References:  11
Pituitary
Species:  Rat
Technique:  RT-PCR
References:  74
Vascular myocytes
Species:  Rat
Technique:  RT-PCR
References:  3
Brain (cerebellum > hippocampus, olfactory bulb > spinal cord, pons/medulla, striatum, hypothalamus/thalamus, cortex)
Species:  Rat
Technique:  Northern Blot
References:  69,74
Brain (widespread, particularly cerebellum, hippocampus, cortex, olfactory bulb > hypothalamus, thalamus)
Species:  Rat
Technique:  In situ hybridisation
References:  44,75
Brain (hippocampus, cerebellum, dorsal cortex, olfactory bulb) and spinal cord
Species:  Rat
Technique:  Immunocytochemistry
References:  93-94
Functional Assays
Patch clamp (whole-cell configuration)
Species:  Rat
Tissue:  Xenopus laevis oocytes expressing Cav2.1.
Response measured:  P/Q type currents
References:  75
Patch clamp (whole cell configuration)
Species:  Rat
Tissue:  HEK-293 cells expressing Cav2.1
Response measured:  P/Q-type currents
References:  5
Patch-clamp (whole cell configuration)
Species:  Human
Tissue:  HEK-293 cells expressing Cav2.1
Response measured:  P/Q-type current
References:  23
Patch-clamp (whole cell configuration)
Species:  Rat
Tissue:  Tissue slices (hippocampus or cerebellum)
Response measured:  P/Q-type currents
References:  42,63
Patch-clamp (whole cell-configuration)
Species:  Rat
Tissue:  Dissociated primary neurons (central and peripheral)
Response measured:  P/Q-type currents
References:  53,55,61-62
Patch-clamp (single channel recordings and two-microelectrode voltage clamp)
Species:  Rat
Tissue:  Xenopus laevis oocytes expressing Cav2.1
Response measured:  P/Q-type currents
References:  5
Measurement of intracellular calcium levels using fluorescent indicators
Species:  Rat
Tissue:  Primary neurons (dissociated and slice cultures)
Response measured:  Changes in intracellular calcium levels due to P/Q-type currents
References:  56
Measurement of evoked neurotransmitter release
Species:  Rat
Tissue:  Central neurons and synaptosomes
Response measured:  KCl-evoked release of neurotransmitters by activation of presynaptic P/Q-type channels
References:  45,83-84
Physiological Functions
Fast synaptic transmission and synaptic plasticity
Species:  Rat
Tissue:  Central neurons
References:  24,58,77,83
Fast synaptic transmisson and synaptic plasticity
Species:  Mouse
Tissue:  Cental neurons
References:  21
Neuromuscular transmission, acetylcholine release
Species:  Mouse
Tissue:  Motor nerve terminals
References:  6,85
Acute inflammatory pain
Species:  Rat
Tissue:  Brain and spinal cord
References:  46,67-68
Physiological Consequences of Altering Gene Expression
Overexpression of the CACNA1A gene containing the R192Q mutation leads to enhanced presynaptic Ca2+ influx, decreased facilitation of evoked acetylcholine release, elevated release probability and increased size of the transmitter vesicle pool.
Species:  Mouse
Tissue:  Neuromuscular junction
Technique:  Knock-in
References:  32,88
Phenotypes, Alleles and Disease Models Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Cacna1atg-la Cacna1atg-la/Cacna1atg-la
B6.Cg-Os +/+ Cacna1a/J
MGI:109482  MP:0005402 abnormal action potential PMID: 11718712 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0005332 abnormal amino acid level PMID: 6167317 
Cacna1atg-4J Cacna1atg-4J/Cacna1atg-4J
B6.C3Bir-Cacna1a
MGI:109482  MP:0005404 abnormal axon morphology PMID: 18597946 
Cacna1a+|Cacna1atg-5J Cacna1atg-5J/Cacna1a+
B10(Cg)-Cacna1a
MGI:109482  MP:0005404 abnormal axon morphology PMID: 18597946 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0005404 abnormal axon morphology PMID: 10611370 
Cacna1atm1Fcr Cacna1atm1Fcr/Cacna1atm1Fcr
involves: 129S1/Sv * C57BL/6J
MGI:109482  MP:0002152 abnormal brain morphology PMID: 11344116 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0005277 abnormal brainstem morphology PMID: 6167317 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: C57BL/6J
MGI:109482  MP:0004994 abnormal brain wave pattern PMID: 10611370 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0000872 abnormal cerebellum external granule cell layer morphology PMID: 10611370 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0000849 abnormal cerebellum morphology PMID: 12023053  4799944 
Cacna1atm2Nobs Cacna1atm2Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0000849 abnormal cerebellum morphology PMID: 19854154 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
involves: 129P2/OlaHsd * C57BL/6J
MGI:109482  MP:0003484 abnormal channel response PMID: 15003170 
Cacna1atg-la Cacna1atg-la/Cacna1atg-la
B6.Cg-Os +/+ Cacna1a/J
MGI:109482  MP:0003484 abnormal channel response PMID: 11718712 
Cacna1atm1Hzo Cacna1atm1Hzo/Cacna1atm1Hzo
involves: 129S/SvEv
MGI:109482  MP:0003484 abnormal channel response PMID: 18687887 
Cacna1atm2Hzo Cacna1atm2Hzo/Cacna1atm2Hzo
involves: 129S/SvEv
MGI:109482  MP:0003484 abnormal channel response PMID: 18687887 
Cacna1atm3Hzo Cacna1atm3Hzo/Cacna1atm3Hzo
involves: 129S/SvEv
MGI:109482  MP:0003484 abnormal channel response PMID: 18687887 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0003484 abnormal channel response PMID: 10611370 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: C57BL/6J
MGI:109482  MP:0003484 abnormal channel response PMID: 10611370 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
involves: 129P2/OlaHsd * C57BL/6J
MGI:109482  MP:0002206 abnormal CNS synaptic transmission PMID: 15003170 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0002206 abnormal CNS synaptic transmission PMID: 12040045 
Cacna1atg Cacna1atg/Cacna1atg
involves: C57BL/6J * DBA/2J
MGI:109482  MP:0002206 abnormal CNS synaptic transmission PMID: 12151514 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: C57BL/6J
MGI:109482  MP:0002206 abnormal CNS synaptic transmission PMID: 10611370 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0005584 abnormal enzyme/coenzyme activity PMID: 6167317 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0002910 abnormal excitatory postsynaptic currents PMID: 12040045 
Cacna1atg Cacna1atg/Cacna1atg
B6.D2-Cacna1a/J
MGI:109482  MP:0002910 abnormal excitatory postsynaptic currents PMID: 12040045 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0002912 abnormal excitatory postsynaptic potential PMID: 10611370 
Cacna1arkr Cacna1arkr/Cacna1arkr
B6.Cg-Cacna1a
MGI:109482  MP:0001406 abnormal gait PMID: 11160387 
Cacna1a+|Cacna1aTg-7J Cacna1aTg-7J/Cacna1a+
involves: 129P2/OlaHsd * C57BL/6J
MGI:109482  MP:0001406 abnormal gait
Cacna1atg-rol|Cacna1atg Cacna1atg-rol/Cacna1atg
involves: C3H * C57BL/6 * DBA/2J * SIII
MGI:109482  MP:0001406 abnormal gait
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C3Hf/Nga * C57BL/6 * SIII
MGI:109482  MP:0002078 abnormal glucose homeostasis PMID: 1486501 
Cacna1a+|Cacna1atg-rol Cacna1atg-rol/Cacna1a+
involves: C3Hf/Nga * C57BL/6 * SIII
MGI:109482  MP:0002078 abnormal glucose homeostasis PMID: 1486501 
Cacna1atg-rol|Cacna1atg Cacna1atg-rol/Cacna1atg
involves: C3H * C57BL/6 * DBA/2J * SIII
MGI:109482  MP:0001392 abnormal locomotor activity
Cacna1arkr Cacna1arkr/Cacna1arkr
B6.Cg-Cacna1a
MGI:109482  MP:0003312 abnormal locomotor coordination PMID: 11160387 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0005266 abnormal metabolism PMID: 8229069 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
involves: 129P2/OlaHsd * C57BL/6J
MGI:109482  MP:0004835 abnormal miniature endplate potential PMID: 15003170 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0004753 abnormal miniature excitatory postsynaptic currents PMID: 12040045 
Cacna1atm1Fcr Cacna1atm1Fcr/Cacna1atm1Fcr
involves: 129S1/Sv * C57BL/6J
MGI:109482  MP:0002066 abnormal motor capabilities/coordination/movement PMID: 11344116 
Cacna1atm1Nobs Cacna1atm1Nobs/Cacna1atm1Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0002066 abnormal motor capabilities/coordination/movement PMID: 19854154 
Cacna1atm1Nobs|Cacna1atm2Nobs Cacna1atm1Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0002066 abnormal motor capabilities/coordination/movement PMID: 19854154 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0004145 abnormal muscle electrophysiology PMID: 18653245 
Cacna1atg-la Cacna1atg-la/Cacna1atg-la
B6.Cg-Os +/+ Cacna1a/J
MGI:109482  MP:0003477 abnormal nerve fiber response PMID: 11718712 
Cacna1atg-4J Cacna1atg-4J/Cacna1atg-4J
B6.C3Bir-Cacna1a
MGI:109482  MP:0002272 abnormal nervous system electrophysiology PMID: 18597946 
Cacna1a+|Cacna1atg-5J Cacna1atg-5J/Cacna1a+
B10(Cg)-Cacna1a
MGI:109482  MP:0002272 abnormal nervous system electrophysiology PMID: 18597946 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0002272 abnormal nervous system electrophysiology PMID: 19104150 
Cacna1a+|Cacna1atm3Maag Cacna1atm3Maag/Cacna1a+
B6.129P2-Cacna1a
MGI:109482  MP:0002272 abnormal nervous system electrophysiology PMID: 19104150 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
B6.129P2-Cacna1a
MGI:109482  MP:0002272 abnormal nervous system electrophysiology PMID: 19104150 
Cacna1a+|Cacna1atm1Maag Cacna1atm1Maag/Cacna1a+
B6.129P2-Cacna1a
MGI:109482  MP:0002272 abnormal nervous system electrophysiology PMID: 19104150 
Cacna1atg-rol|Cacna1atg Cacna1atg-rol/Cacna1atg
involves: C3H * C57BL/6 * DBA/2J * SIII
MGI:109482  MP:0003632 abnormal nervous system morphology
Cacna1atm1Fcr Cacna1atm1Fcr/Cacna1atm1Fcr
involves: 129S1/Sv * C57BL/6J
MGI:109482  MP:0003633 abnormal nervous system physiology PMID: 11344116 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C3Hf/Nga * C57BL/6 * SIII
MGI:109482  MP:0003633 abnormal nervous system physiology PMID: 1486501 
Cacna1a+|Cacna1atg-rol Cacna1atg-rol/Cacna1a+
involves: C3Hf/Nga * C57BL/6 * SIII
MGI:109482  MP:0003633 abnormal nervous system physiology PMID: 1486501 
Cacna1atm3Hzo Cacna1atm3Hzo/Cacna1atm3Hzo
involves: 129S/SvEv
MGI:109482  MP:0002882 abnormal neuron morphology PMID: 18687887 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0002882 abnormal neuron morphology PMID: 10611370 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C3Hf/Nga * C57BL/6 * SIII
MGI:109482  MP:0003964 abnormal noradrenaline level PMID: 6123371 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0001382 abnormal nursing PMID: 4799944 
Cacna1atg Cacna1atg/Cacna1atg
B6.D2-Cacna1a/J
MGI:109482  MP:0004807 abnormal paired-pulse inhibition PMID: 12040045 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0008872 abnormal physiological response to xenobiotic PMID: 19104150 
Cacna1a+|Cacna1atm3Maag Cacna1atm3Maag/Cacna1a+
B6.129P2-Cacna1a
MGI:109482  MP:0008872 abnormal physiological response to xenobiotic PMID: 19104150 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
B6.129P2-Cacna1a
MGI:109482  MP:0008872 abnormal physiological response to xenobiotic PMID: 19104150 
Cacna1a+|Cacna1atm1Maag Cacna1atm1Maag/Cacna1a+
B6.129P2-Cacna1a
MGI:109482  MP:0008872 abnormal physiological response to xenobiotic PMID: 19104150 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
involves: 129P2/OlaHsd * C57BL/6J
MGI:109482  MP:0002913 abnormal PNS synaptic transmission PMID: 15003170 
Cacna1atm1Fcr Cacna1atm1Fcr/Cacna1atm1Fcr
involves: 129S1/Sv * C57BL/6J
MGI:109482  MP:0002089 abnormal postnatal growth/weight/body size PMID: 11344116 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0001504 abnormal posture PMID: 19104150 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
B6.129P2-Cacna1a
MGI:109482  MP:0001504 abnormal posture PMID: 19104150 
Cacna1arkr Cacna1arkr/Cacna1arkr
B6.Cg-Cacna1a
MGI:109482  MP:0008572 abnormal Purkinje cell dendrite morphology PMID: 11160387 
Cacna1atg-4J Cacna1atg-4J/Cacna1atg-4J
B6.C3Bir-Cacna1a
MGI:109482  MP:0008572 abnormal Purkinje cell dendrite morphology PMID: 18597946 
Cacna1a+|Cacna1atg-5J Cacna1atg-5J/Cacna1a+
B10(Cg)-Cacna1a
MGI:109482  MP:0008572 abnormal Purkinje cell dendrite morphology PMID: 18597946 
Cacna1atg-4J Cacna1atg-4J/Cacna1atg-4J
B6.C3Bir-Cacna1a
MGI:109482  MP:0000877 abnormal Purkinje cell morphology PMID: 18597946 
Cacna1a+|Cacna1atg-5J|Tg(Pvalb-EGFP)B20Zjh Cacna1atg-5J/Cacna1a+,Tg(Pvalb-EGFP)B20Zjh/?
involves: BALB/cByJ * C57BL/6 * C57BL/10J
MGI:109482  MGI:3803683  MP:0000877 abnormal Purkinje cell morphology PMID: 18597946 
Cacna1a+|Cacna1atg-5J Cacna1atg-5J/Cacna1a+
B10(Cg)-Cacna1a
MGI:109482  MP:0000877 abnormal Purkinje cell morphology PMID: 18597946 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0003638 abnormal response/metabolism to endogenous compounds PMID: 8229069 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: C57BL/6J
MGI:109482  MP:0008840 abnormal spike wave discharge PMID: 10611370 
Cacna1atm2Nobs Cacna1atm2Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0008840 abnormal spike wave discharge PMID: 19854154 
Cacna1atg-6J Cacna1atg-6J/Cacna1atg-6J
involves: BALB/cByJ * C57BL/6J
MGI:109482  MP:0002356 abnormal spleen red pulp morphology
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
involves: 129P2/OlaHsd * C57BL/6J
MGI:109482  MP:0004836 abnormal synaptic acetylcholine release PMID: 15003170 
Cacna1atm2.1Maag|Cacna1atm2.2Maag|Tg(EIIa-cre)C5379Lmgd Cacna1atm2.1Maag/Cacna1atm2.2Maag,Tg(EIIa-cre)C5379Lmgd/0
involves: 129P2/OlaHsd * FVB/N
MGI:109482  MGI:2137685  MP:0004836 abnormal synaptic acetylcholine release PMID: 17146767 
Cacna1atg-4J Cacna1atg-4J/Cacna1atg-4J
B6.C3Bir-Cacna1a
MGI:109482  MP:0003491 abnormal voluntary movement PMID: 18597946 
Cacna1arkr Cacna1arkr/Cacna1arkr
B6.Cg-Cacna1a
MGI:109482  MP:0003216 absence seizures PMID: 11160387 
Cacna1atg-4J Cacna1atg-4J/Cacna1atg-4J
B6.C3Bir-Cacna1a
MGI:109482  MP:0003216 absence seizures PMID: 18597946 
Cacna1atm2Nobs Cacna1atm2Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0003216 absence seizures PMID: 19854154 
Cacna1atm1Nobs|Cacna1atm2Nobs Cacna1atm1Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0003216 absence seizures PMID: 19854154 
Cacna1arkr Cacna1arkr/Cacna1arkr
B6.Cg-Cacna1a
MGI:109482  MP:0001393 ataxia PMID: 11160387 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0001393 ataxia PMID: 12040045  4799944 
Cacna1atm2.1Maag|Cacna1atm2.2Maag|Tg(EIIa-cre)C5379Lmgd Cacna1atm2.1Maag/Cacna1atm2.2Maag,Tg(EIIa-cre)C5379Lmgd/0
involves: 129P2/OlaHsd * FVB/N
MGI:109482  MGI:2137685  MP:0001393 ataxia PMID: 17146767 
Cacna1atg Cacna1atg/Cacna1atg
B6.D2-Cacna1a/J
MGI:109482  MP:0001393 ataxia PMID: 12040045 
Cacna1a+|Cacna1aWb Cacna1aWb/Cacna1a+
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0001393 ataxia PMID: 17376154 
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0001393 ataxia PMID: 17376154 
Cacna1atg-la|Cacna1aWb Cacna1atg-la/Cacna1aWb
involves: AKR/J * C3H/HeJ * C57BL/6J
MGI:109482  MP:0001393 ataxia PMID: 17376154 
Cacna1atm1(CACNA1A)Ttan Cacna1atm1(CACNA1A)Ttan/Cacna1atm1(CACNA1A)Ttan
involves: 129S4/SvJae
MGI:109482  MP:0001393 ataxia PMID: 17188510 
Cacna1atm1.1(CACNA1A)Ttan Cacna1atm1.1(CACNA1A)Ttan/Cacna1atm1.1(CACNA1A)Ttan
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL
MGI:109482  MP:0001393 ataxia PMID: 17188510 
Cacna1atm2.1(CACNA1A)Ttan Cacna1atm2.1(CACNA1A)Ttan/Cacna1atm2.1(CACNA1A)Ttan
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL
MGI:109482  MP:0001393 ataxia PMID: 17188510 
Cacna1atg-4J Cacna1atg-4J/Cacna1atg-4J
B6.C3Bir-Cacna1a
MGI:109482  MP:0001393 ataxia PMID: 18597946 
Cacna1atg-5J Cacna1atg-5J/Cacna1atg-5J
involves: BALB/cByJ * C57BL/10J
MGI:109482  MP:0001393 ataxia PMID: 18597946 
Cacna1a+|Cacna1atg-5J Cacna1atg-5J/Cacna1a+
B10(Cg)-Cacna1a
MGI:109482  MP:0001393 ataxia PMID: 18597946 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0001393 ataxia PMID: 10611370 
Cacna1atm1Nobs Cacna1atm1Nobs/Cacna1atm1Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0001393 ataxia PMID: 19854154 
Cacna1atm2Nobs Cacna1atm2Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0001393 ataxia PMID: 19854154 
Cacna1atm1Nobs|Cacna1atm2Nobs Cacna1atm1Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0001393 ataxia PMID: 19854154 
Cacna1a+|Cacna1aTg-7J Cacna1aTg-7J/Cacna1a+
involves: 129P2/OlaHsd * C57BL/6J
MGI:109482  MP:0001393 ataxia
Cacna1atg-rol|Cacna1atg Cacna1atg-rol/Cacna1atg
involves: C3H * C57BL/6 * DBA/2J * SIII
MGI:109482  MP:0001393 ataxia
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0000851 cerebellum hypoplasia
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0001394 circling PMID: 19104150 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
B6.129P2-Cacna1a
MGI:109482  MP:0001394 circling PMID: 19104150 
Cacna1atm2Nobs Cacna1atm2Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0003996 clonic seizures PMID: 19854154 
Cacna1atg-6J Cacna1atg-6J/Cacna1atg-6J
involves: BALB/cByJ * C57BL/6J
MGI:109482  MP:0001265 decreased body size
Cacna1atm2.1Maag|Cacna1atm2.2Maag|Tg(EIIa-cre)C5379Lmgd Cacna1atm2.1Maag/Cacna1atm2.2Maag,Tg(EIIa-cre)C5379Lmgd/0
involves: 129P2/OlaHsd * FVB/N
MGI:109482  MGI:2137685  MP:0001265 decreased body size PMID: 17146767 
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0001265 decreased body size PMID: 17376154 
Cacna1atg-5J Cacna1atg-5J/Cacna1atg-5J
involves: BALB/cByJ * C57BL/10J
MGI:109482  MP:0001265 decreased body size PMID: 18597946 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0001265 decreased body size PMID: 10611370 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C3Hf/Nga * C57BL/6 * SIII
MGI:109482  MP:0001262 decreased body weight PMID: 1486501 
Cacna1atg-6J Cacna1atg-6J/Cacna1atg-6J
involves: BALB/cByJ * C57BL/6J
MGI:109482  MP:0000333 decreased bone marrow cell number
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0010053 decreased grip strength PMID: 17376154 
Cacna1atg-la|Cacna1aWb Cacna1atg-la/Cacna1aWb
involves: AKR/J * C3H/HeJ * C57BL/6J
MGI:109482  MP:0010053 decreased grip strength PMID: 17376154 
Cacna1atg-la Cacna1atg-la/Cacna1atg-la
B6.Cg-Os +/+ Cacna1a/J
MGI:109482  MP:0003481 decreased nerve fiber response intensity PMID: 11718712 
Cacna1atm2.1Maag|Cacna1atm2.2Maag|Tg(EIIa-cre)C5379Lmgd Cacna1atm2.1Maag/Cacna1atm2.2Maag,Tg(EIIa-cre)C5379Lmgd/0
involves: 129P2/OlaHsd * FVB/N
MGI:109482  MGI:2137685  MP:0003990 decreased neurotransmitter release PMID: 17146767 
Cacna1atg-la Cacna1atg-la/Cacna1atg-la
B6.Cg-Os +/+ Cacna1a/J
MGI:109482  MP:0003998 decreased thermal nociceptive threshold PMID: 11718712 
Cacna1atm3Hzo Cacna1atm3Hzo/Cacna1atm3Hzo
involves: 129S/SvEv
MGI:109482  MP:0001511 disheveled coat PMID: 18687887 
Cacna1atm2.1Maag|Cacna1atm2.2Maag|Tg(EIIa-cre)C5379Lmgd Cacna1atm2.1Maag/Cacna1atm2.2Maag,Tg(EIIa-cre)C5379Lmgd/0
involves: 129P2/OlaHsd * FVB/N
MGI:109482  MGI:2137685  MP:0005323 dystonia PMID: 17146767 
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0005323 dystonia PMID: 17376154 
Cacna1atg-la|Cacna1aWb Cacna1atg-la/Cacna1aWb
involves: AKR/J * C3H/HeJ * C57BL/6J
MGI:109482  MP:0005323 dystonia PMID: 17376154 
Cacna1atm1(CACNA1A)Ttan Cacna1atm1(CACNA1A)Ttan/Cacna1atm1(CACNA1A)Ttan
involves: 129S4/SvJae
MGI:109482  MP:0005323 dystonia PMID: 17188510 
Cacna1atm1.1(CACNA1A)Ttan Cacna1atm1.1(CACNA1A)Ttan/Cacna1atm1.1(CACNA1A)Ttan
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL
MGI:109482  MP:0005323 dystonia PMID: 17188510 
Cacna1atm2.1(CACNA1A)Ttan Cacna1atm2.1(CACNA1A)Ttan/Cacna1atm2.1(CACNA1A)Ttan
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL
MGI:109482  MP:0005323 dystonia PMID: 17188510 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0009746 enhanced behavioral response to xenobiotic PMID: 19104150 
Cacna1a+|Cacna1atm3Maag Cacna1atm3Maag/Cacna1a+
B6.129P2-Cacna1a
MGI:109482  MP:0009746 enhanced behavioral response to xenobiotic PMID: 19104150 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
B6.129P2-Cacna1a
MGI:109482  MP:0009746 enhanced behavioral response to xenobiotic PMID: 19104150 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0002919 enhanced paired-pulse facilitation PMID: 12040045 
Cacna1a+|Cacna1aWb Cacna1aWb/Cacna1a+
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0001402 hypoactivity PMID: 17376154 
Cacna1atm3Hzo Cacna1atm3Hzo/Cacna1atm3Hzo
involves: 129S/SvEv
MGI:109482  MP:0001402 hypoactivity PMID: 18687887 
Cacna1atg-la Cacna1atg-la/Cacna1atg-la
B6.Cg-Os +/+ Cacna1a/J
MGI:109482  MP:0005498 hyporesponsive to tactile stimuli PMID: 11718712 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0001525 impaired balance PMID: 10611370 
Cacna1a+|Cacna1aWb Cacna1aWb/Cacna1a+
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0001405 impaired coordination PMID: 17376154 
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0001405 impaired coordination PMID: 17376154 
Cacna1atg-la|Cacna1aWb Cacna1atg-la/Cacna1aWb
involves: AKR/J * C3H/HeJ * C57BL/6J
MGI:109482  MP:0001405 impaired coordination PMID: 17376154 
Cacna1a+|Cacna1atm1(CACNA1A)Ttan Cacna1atm1(CACNA1A)Ttan/Cacna1a+
involves: 129S4/SvJae
MGI:109482  MP:0001405 impaired coordination PMID: 17188510 
Cacna1atm3Hzo Cacna1atm3Hzo/Cacna1atm3Hzo
involves: 129S/SvEv
MGI:109482  MP:0001405 impaired coordination PMID: 18687887 
Cacna1a+|Cacna1atm3Hzo Cacna1atm3Hzo/Cacna1a+
involves: 129S/SvEv * C57BL/6J
MGI:109482  MP:0001405 impaired coordination PMID: 18687887 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0001405 impaired coordination PMID: 19104150 
Cacna1atm2Nobs Cacna1atm2Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0001405 impaired coordination PMID: 19854154 
Cacna1atg-6J Cacna1atg-6J/Cacna1atg-6J
involves: BALB/cByJ * C57BL/6J
MGI:109482  MP:0001524 impaired limb coordination
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0001524 impaired limb coordination PMID: 4799944 
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0001523 impaired righting response PMID: 17376154 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0001523 impaired righting response PMID: 10611370 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0006042 increased apoptosis PMID: 12023053 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0009766 increased sensitivity to xenobiotic induced morbidity/mortality PMID: 19104150 
Cacna1atm2.1Maag|Cacna1atm2.2Maag|Tg(EIIa-cre)C5379Lmgd Cacna1atm2.1Maag/Cacna1atm2.2Maag,Tg(EIIa-cre)C5379Lmgd/0
involves: 129P2/OlaHsd * FVB/N
MGI:109482  MGI:2137685  MP:0008569 lethality at weaning PMID: 17146767 
Cacna1atm1(CACNA1A)Ttan Cacna1atm1(CACNA1A)Ttan/Cacna1atm1(CACNA1A)Ttan
involves: 129S4/SvJae
MGI:109482  MP:0008569 lethality at weaning PMID: 17188510 
Cacna1atm2(CACNA1A)Ttan Cacna1atm2(CACNA1A)Ttan/Cacna1atm2(CACNA1A)Ttan
involves: 129S4/SvJae
MGI:109482  MP:0008569 lethality at weaning PMID: 17188510 
Cacna1atm1.1(CACNA1A)Ttan Cacna1atm1.1(CACNA1A)Ttan/Cacna1atm1.1(CACNA1A)Ttan
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL
MGI:109482  MP:0008569 lethality at weaning PMID: 17188510 
Cacna1atm2.1(CACNA1A)Ttan Cacna1atm2.1(CACNA1A)Ttan/Cacna1atm2.1(CACNA1A)Ttan
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL
MGI:109482  MP:0008569 lethality at weaning PMID: 17188510 
Cacna1atg-6J Cacna1atg-6J/Cacna1atg-6J
involves: BALB/cByJ * C57BL/6J
MGI:109482  MP:0001513 limb grasping
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0000743 muscle spasm PMID: 10611370 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0000747 muscle weakness PMID: 18653245 
Cacna1atm2.1Maag Cacna1atm2.1Maag/Cacna1atm2.1Maag
involves: 129P2/OlaHsd
MGI:109482  MP:0002169 no abnormal phenotype detected PMID: 17146767 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0000753 paralysis PMID: 19104150 
Cacna1atm1Maag Cacna1atm1Maag/Cacna1atm1Maag
B6.129P2-Cacna1a
MGI:109482  MP:0000753 paralysis PMID: 19104150 
Cacna1atm1Nobs|Cacna1atm2Nobs Cacna1atm1Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0002082 postnatal lethality PMID: 19854154 
Cacna1atm1Fcr Cacna1atm1Fcr/Cacna1atm1Fcr
involves: 129S1/Sv * C57BL/6J
MGI:109482  MP:0002083 premature death PMID: 11344116 
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0002083 premature death PMID: 17376154 
Cacna1atg-5J Cacna1atg-5J/Cacna1atg-5J
involves: BALB/cByJ * C57BL/10J
MGI:109482  MP:0002083 premature death PMID: 18597946 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0002083 premature death PMID: 10611370 
Cacna1atm1Nobs Cacna1atm1Nobs/Cacna1atm1Nobs
involves: 129 * C57BL/6J
MGI:109482  MP:0002083 premature death PMID: 19854154 
Cacna1atg-5J Cacna1atg-5J/Cacna1atg-5J
involves: BALB/cByJ * C57BL/10J
MGI:109482  MP:0002080 prenatal lethality PMID: 18597946 
Cacna1atg-5J Cacna1atg-5J/Cacna1atg-5J
B10(Cg)-Cacna1a
MGI:109482  MP:0002080 prenatal lethality PMID: 18597946 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0001923 reduced female fertility PMID: 4799944 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0001922 reduced male fertility PMID: 4799944 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0001953 respiratory failure PMID: 19104150 
Cacna1atm3Maag Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1a
MGI:109482  MP:0002064 seizures PMID: 19104150 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0000852 small cerebellum PMID: 6167317 
Cacna1a+|Cacna1aWb Cacna1aWb/Cacna1a+
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0000852 small cerebellum PMID: 17376154 
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0000852 small cerebellum PMID: 17376154 
Cacna1atm1Hssh Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129/Sv * C57BL/6J
MGI:109482  MP:0000852 small cerebellum PMID: 10611370 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C3Hf/Nga * C57BL/6 * SIII
MGI:109482  MP:0000852 small cerebellum PMID: 6123371 
Cacna1a+|Cacna1aWb Cacna1aWb/Cacna1a+
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0000890 thin cerebellar molecular layer PMID: 17376154 
Cacna1aWb Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1a or (involves: C3H/HeJ * C57BL/6J)
MGI:109482  MP:0000890 thin cerebellar molecular layer PMID: 17376154 
Cacna1atg-6J Cacna1atg-6J/Cacna1atg-6J
involves: BALB/cByJ * C57BL/6J
MGI:109482  MP:0003644 thymus atrophy
Cacna1arkr Cacna1arkr/Cacna1arkr
B6.Cg-Cacna1a
MGI:109482  MP:0000745 tremors PMID: 11160387 
Cacna1atg-rol Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII
MGI:109482  MP:0000746 weakness PMID: 4799944 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Episodic ataxia type 2 (EA-2)
OMIM:  108500
Orphanet:  97
Comments: 
References:  2
Click column headers to sort
Type Species Molecular location Description Reference
Deletion Human Y1594del and A1593D 13
Deletion Human MS1488/89 47
Frameshift Human 4073delC (mRNA) 60
Frameshift Human 1293 13
Frameshift Human 780 13
Missense Human G4270+1A (aberrant splicing) 60
Missense Human R2136C 47
Missense Human E1761K 30
Missense Human H1736L 71
Missense Human R1666H 17
Missense Human R1664Q 78
Missense Human V1494I 47
Missense Human F1491S 20,47
Missense Human G1483R 47
Missense Human F1406C 27-28,30
Missense Human G293R 27,91,95
Missense Human C287Y 27,91
Missense Human C256R 47
Missense Human H253Y 87
Missense Human E147K 25
Truncation Human Q2039X 27
Truncation Human R1820X 31
Truncation Human R1785X 27
Truncation Human R1669X 30
Truncation Human Q1561X 72
Truncation Human R1549X 27-28,30
Truncation Human R1547X 29
Truncation Human R1546X 13
Truncation Human W1451X 27
Truncation Human Y1443X 13
Truncation Human R1281X 27-28,30
Truncation Human R1279X 92
Disease:  Alternating hemiplegia of childhood
OMIM:  104290
Orphanet:  2131
References:  12
Mutations not determined
Disease:  Familial hemiplegic migrane type 1 (FHM-1)
OMIM:  141500
Orphanet:  569
Comments: 
References:  2
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human I1811L 7,22,37,60
Missense Human I1710T 35
Missense Human V1696I 15,59
Missense Human W1684R 15,59
Missense Human L1682P 18
Missense Human R1668W 16
Missense Human V1457L 8,38,80
Missense Human Y1385C 16,86
Missense Human R1347Q 73
Missense Human K1336E 15,59
Missense Human D715E 15-16
Missense Human V714A 7,22,37,60
Missense Human T666M 4,7,15-16,22,34,37,60
Missense Human R583Q 15,38
Missense Human S218L 36,81
Missense Human R195K 15
Missense Human R192Q 7,22,32,37,52,60,88
Disease:  Spinocerebellar ataxia type 6 (SCA-6)
OMIM:  183086
Orphanet:  98758
Comments: 
References:  2
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human Polyglutamine expansion in carboxyl region 26,33,48,64,79
Disease:  Benign paroxysmal torticollis of infancy
Orphanet:  71518
References:  19,90
Mutations not determined
Clinically-Relevant Mutations and Pathophysiology Comments
FHM-1, EA-2 and SCA6 are all autosomal dominant disorders [2]

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To cite this database page, please use the following:

William A. Catterall, Edward Perez-Reyes, Terrance P. Snutch, Joerg Striessnig.
Voltage-gated calcium channels: Cav2.1. Last modified on 18/03/2014. Accessed on 30/07/2014. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=532.

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