Strain Name:
Stock Number:
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Other Names:
EA2 knockin mice

Gene Information

Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; targeted mutation 1.1, Ellen Hess
Synonyms: EA2
Type: Allele
Species: Mus musculus (mouse)
Chromosome: 8
Alteration at locus: Knock-In
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Synonyms: Cacnl1a4, alpha1A, Ccha1a, SCA6, nmf352, smrl
Type: Gene
Species: Mus musculus (mouse)
Chromosome: 8
Alteration at locus: Knock-In
NCBI: 12286
Homologene: 56383
Genetic Alterations

Knock-in of a nucleic acid alteration reported as c.4486T>G/p.F1406C in the mouse ortholog of the human CACNA1A gene (PMID:25109669). Figure 1c of this publication provides the sequence reference frame of GTTCTTCCACT, where the underscored T is replaced with a G. This correlates with NM_007578.3:c.4064T>G/p.(Phe1355Cys) in the mouse and NM_023035.3:c.4220T>G/p.(Phe1407Cys) in humans, using the longest known isoform RefSeqs per HGVS nomenclature rules. The original report of c.4486T>G/p.F1406C cannot be reconciled; see LUMC Mutalyzer analyses below.

HVGS Nomenclature
  • Genbank RefSeq - mRNA: NM_007578.3
  • Genbank RefSeq, protein: NP_031604.3
  • Variant, nucleic acid level: c.4064T>G
  • Variant, amino acid level, predicted: p.Phe1355Cys (F1355C)
  • Check this variant: LUMC Mutalyzer
  • Genbank RefSeq - mRNA: NM_023035.3
  • Genbank RefSeq, protein: NP_075461.2
  • Variant, nucleic acid level: c.4220T>G
  • Variant, amino acid level, predicted: p.Phe1407Cys (F1407C)
  • Check this variant: LUMC Mutalyzer
ES Cell Line
Not specified
Mice homozygous for the mutated allele exhibit a ~70% reduction in CaV2.1 current density inPurkinje cells, though surprisingly do not exhibit an overt motor phenotype.
MeSH Terms
  • Animals
  • Ataxia/genetics
  • Ataxia/pathology
  • Ataxia/physiopathology
  • Calcium Channel Blockers/pharmacology
  • Calcium Channels, N-Type/genetics
  • Cerebellum/pathology
  • Disease Models, Animal
  • Humans
  • Intracellular Signaling Peptides and Proteins/genetics
  • Membrane Potentials/drug effects
  • Membrane Potentials/genetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Motor Activity/genetics
  • Mutation, Missense/genetics
  • Neurons/physiology
  • Nystagmus, Pathologic/genetics
  • Nystagmus, Pathologic/pathology
  • Nystagmus, Pathologic/physiopathology
  • Patch-Clamp Techniques
  • Reaction Time/drug effects
  • Sodium Channel Blockers/pharmacology
  • Tetrodotoxin/pharmacology
Strain Development
C57BL/6-derived embryonic stem cells of unknown origin (donor indicates overall B6J-coisogenic model). Mice carrying the unresolved knock-in allele were crossed with the Cre-deleter strain C57BL/6-Tg(Zp3-Cre)93Knw/J (RRID:IMSR_JAX:003651) to remove the floxed neomycin cassette. Progeny carrying the resolved allele were crossed with C57BL/6J mice to segregate the Cre allele. The EA2 knock-in mice were bred and maintained on a C57BL/6J background.
Suggested Control Mice
  • Models for Human Disease
  • Neurobiology
Ellen Hess, Ph.D., Emory University.
Primary Reference

Rose SJ, Kriener LH, Heinzer AK, Fan X, Raike RS, van den Maagdenberg AM, Hess EJ. The first knockin mouse model of episodic ataxia type 2. Exp Neurol. 2014 Nov;261:553-62. doi: 10.1016/j.expneurol.2014.08.001. Epub 2014 Aug 8. (Medline PMID: 25109669)

Colony and Husbandry Information

Colony Surveillance Program and Current Health Reports

For more information about this colony's health status contact
Coat Color
MMRRC Breeding System
N? (C57BL/6J)
Overall Breeding Performance
Viability and Fertility: Female Male Comments
Homozygotes are viable: Yes Yes
Homozygotes are fertile: Yes Yes
Heterozygotes are fertile: Yes Yes
Age Reproductive Decline: Undetermined Undetermined
Average litter size
7 to 9
Recommended wean age
3 Weeks
Average Pups Weaned
7 to 9

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