About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Cacna1atm2.2Maag
targeted mutation 2.2, Arn van den Maagdenberg
MGI:3696967
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Cacna1atm2.1Maag/Cacna1atm2.2Maag
Tg(EIIa-cre)C5379Lmgd/0 		involves: 129P2/OlaHsd * FVB/N MGI:3697450


Genotype
MGI:3697450
cn1
Allelic
Composition		 Cacna1atm2.1Maag/Cacna1atm2.2Maag
Tg(EIIa-cre)C5379Lmgd/0
Genetic
Background		 involves: 129P2/OlaHsd * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna1atm2.1Maag mutation (0 available); any Cacna1a mutation (118 available)
Cacna1atm2.2Maag mutation (0 available); any Cacna1a mutation (118 available)
Tg(EIIa-cre)C5379Lmgd mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
lethality at weaning, complete penetrance ( J:117062 )
• die around P20-22 if left unaided

behavior/neurological
dystonia ( J:117062 )
• progressive, severe dystonia starting around P10-12
ataxia ( J:117062 )
• progressive, severe ataxia starting around P10-12

nervous system
abnormal synaptic acetylcholine release ( J:117062 )
• acetylcholine release is insensitive to 200 nM omega-Agatoxin-IVA in neuromuscular junctions
decreased neurotransmitter release ( J:117062 )
• about a 40% reduction in quantal content in neuromuscular junctions

growth/size/body
decreased body size ( J:117062 )
• at P20

muscle
dystonia ( J:117062 )
• progressive, severe dystonia starting around P10-12




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory