Phenotypes associated with this allele

• Allele Symbol: Camta1^tm1.1Eno
• Allele Name: targeted mutation 1.1, Eric N Olson
• Allele ID: MGI:5637357
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Camta1^tm1.1Eno/Camta1^tm1.1Eno Tg(Nes-cre)1Kln/0	involves: C57BL/6 * SJL	MGI:5762853

Genotype
MGI:5762853

cn1

• Allelic Composition: Camta1^tm1.1Eno/Camta1^tm1.1Eno; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

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

Degeneration of Purkinje cells and cerebellar atrophy in Camta1^tm1.1Eno/Camta1^tm1.1Eno Tg(Nes-cre)1Kln/0 mice

mortality/aging

mortality/aging ( J:212232 )

N • mice exhibit normal survival up to 1 year of age, unlike Camta1^tm1.2Eno homozygotes

growth/size/body

decreased body size ( J:212232 )

• runting is seen in only a subset of mice and is less severe than in Camta1^tm1.2Eno homozygotes

behavior/neurological

ataxia ( J:212232 )

• severe ataxia by 6 weeks of age, as determined by several motor tasks and general observation

• fully penetrant at >3 months of age

impaired coordination ( J:212232 )

• impaired motor performance on the accelerating rotarod and beam walk tests by 6 weeks of age

• by 3 months, loss of motor coordination is fully penetrant and more pronounced in the hindlimbs

nervous system

abnormal Purkinje cell morphology ( J:212232 )

• Purkinje cells are reduced in size and disarrayed at 6 months of age

Purkinje cell degeneration ( J:212232 )

• severe loss of Purkinje cells at 3 months of age

• however, Purkinje cell number is normal at age 2-3 weeks of age

thin cerebellar granule layer ( J:212232 )

• significant decrease in the width of the cerebellar granular layer at 3 months of age

thin cerebellar molecular layer ( J:212232 )

• significant decrease in the width of the cerebellar molecular layer at 3 months of age

cerebellum atrophy ( J:212232 )

• progressive cerebellar atrophy with significant reduction in cerebellar size at 3 months of age

• however, cerebellar architecture is normal at 2-3 weeks of age

reproductive system

reduced fertility ( J:212232 )

• young mice breed at a reduced frequency