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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




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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory