Phenotypes associated with this allele

• Allele Symbol: Cacna1a^Tg-5J
• Allele Name: tottering 5 Jackson
• Allele ID: MGI:2181625
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna1a^Tg-5J/Cacna1a^Tg-5J	B10.Cg-Cacna1a^Tg-5J	MGI:3804052
hm2	Cacna1a^Tg-5J/Cacna1a^Tg-5J	involves: BALB/cByJ * C57BL/10J	MGI:3803743
ht3	Cacna1a^Tg-5J/Cacna1a^+	B10.Cg-Cacna1a^Tg-5J	MGI:3804050
cx4	Cacna1a^Tg-5J/Cacna1a^+ Tg(Pvalb-EGFP)B20Zjh/?	involves: BALB/cByJ * C57BL/6 * C57BL/10J	MGI:3803746

Genotype
MGI:3804052

hm1

• Allelic Composition: Cacna1a^Tg-5J/Cacna1a^Tg-5J
• Genetic Background: B10.Cg-Cacna1a^Tg-5J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

preweaning lethality, complete penetrance ( J:137816 )

• Background Sensitivity: on the B10 genetic background, no homozygotes are produced from heterozygote x heterozygote matings

Genotype
MGI:3803743

hm2

• Allelic Composition: Cacna1a^Tg-5J/Cacna1a^Tg-5J
• Genetic Background: involves: BALB/cByJ * C57BL/10J

mortality/aging

premature death ( J:137816 )

• homozygotes do not live beyond 6 weeks of age

preweaning lethality, incomplete penetrance ( J:137816 )

• Background Sensitivity: only 3% of homozygotes are produced from heterozygote x heterozygote matings

behavior/neurological

ataxia ( J:137816 )

• homozygotes are severely ataxic

growth/size/body

decreased body size ( J:137816 )

• runted

Genotype
MGI:3804050

ht3

• Allelic Composition: Cacna1a^Tg-5J/Cacna1a⁺
• Genetic Background: B10.Cg-Cacna1a^Tg-5J

behavior/neurological

ataxia ( J:137816 )

• gait is shaky and hindlimbs are splayed laterally from body

nervous system

abnormal Purkinje cell morphology ( J:137816 )

• Purkinje cell arbor is reduced in complexity and in overall dendritic mass

abnormal Purkinje cell dendrite morphology ( J:137816 )

• tips of distal dendrites have an abnormal serpentine-like appearance

• shafts of dendrites exhibit a thickening in the upper molecular layer

abnormal axon morphology ( J:137816 )

• axonal swelling is observed in Purkinje cells

abnormal nervous system electrophysiology ( J:137816 )

• calcium channel voltage activation and inactivation is shifted to lower voltages

Genotype
MGI:3803746

cx4

• Allelic Composition: Cacna1a^Tg-5J/Cacna1a⁺; Tg(Pvalb-EGFP)B20Zjh/?
• Genetic Background: involves: BALB/cByJ * C57BL/6 * C57BL/10J

nervous system

abnormal Purkinje cell morphology ( J:137816 )

• GFP-stained Purkinje cells exhibit decreased branching

• primary branches have novel GFP-negative vacuoles that do not impede cytoplasmic flow