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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Cacna1atm1.1Ehess
targeted mutation 1.1, Ellen Hess
MGI:5704132
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Cacna1atm1.1Ehess/Cacna1atm1.1Ehess C57BL/6-Cacna1atm1.1Ehess MGI:5707183
cn2
 		Cacna1atm1.1Ehess/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0 		involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:5707185
cn3
 		Cacna1atm1.1Ehess/Cacna1atm2.1Maag
Tg(Atoh1-cre/Esr1*)14Fsh/0 		involves: 129P2/OlaHsd * C57BL/6 * FVB/N MGI:5707186


Genotype
MGI:5707183
hm1
Allelic
Composition		 Cacna1atm1.1Ehess/Cacna1atm1.1Ehess
Genetic
Background		 C57BL/6-Cacna1atm1.1Ehess
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1.1Ehess mutation (0 available); any Cacna1a mutation (118 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal channel response ( J:217557 )
• mice exhibit an approximate 70% reduction in the calcium current of dissociated Purkinje cells
• Purkinje cells are more sensitive to the Ca(v)1.2 channel blocker nimodipine and the Ca(v)2.2 channel blocker omega-conotoxin-GVIA
• whole-cell currents in Purkinje cells are much less sensitive to the Ca(v)2.1 blocker omega-conotoxin-MVIIC
• however, mice do not exhibit abnormalities in cerebellar anatomy or gross Purkinje cell death

behavior/neurological
behavior/neurological phenotype ( J:217557 )
N
• mice do not exhibit obvious motor abnormalities at baseline
• common triggers like caffeine and EtOH do not elicit episodic motor dysfunction

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
episodic ataxia type 2 DOID:0050990 OMIM:108500
 J:217557




Genotype
MGI:5707185
cn2
Allelic
Composition		 Cacna1atm1.1Ehess/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
Genetic
Background		 involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1.1Ehess mutation (0 available); any Cacna1a mutation (118 available)
Cacna1atm2.1Maag mutation (0 available); any Cacna1a mutation (118 available)
Tg(Pcp2-cre)2Mpin mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
behavior/neurological phenotype ( J:217557 )
N
• mice do not exhibit motor dysfunction on the rotarod




Genotype
MGI:5707186
cn3
Allelic
Composition		 Cacna1atm1.1Ehess/Cacna1atm2.1Maag
Tg(Atoh1-cre/Esr1*)14Fsh/0
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm1.1Ehess mutation (0 available); any Cacna1a mutation (118 available)
Cacna1atm2.1Maag mutation (0 available); any Cacna1a mutation (118 available)
Tg(Atoh1-cre/Esr1*)14Fsh mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
behavior/neurological phenotype ( J:217557 )
N
• mice do not exhibit motor dysfunction on the rotarod




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory