Phenotypes Associated with This Genotype

Genotype
MGI:3771565

• Allelic Composition: Cbll^{Tg(Alb-KL)7-2Mhos}/Cbll^{Tg(Alb-KL)7-2Mhos}
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:100997 )

• lifespan of mice is at least 2 years of age compared to mice homozygous for a null allele of Ptf1a that die shortly after birth

nervous system

abnormal Purkinje cell differentiation ( J:100997 )

• purkinje cells fail to develop

thin external granule cell layer ( J:100997 )

• the EGL is much thinner at 4 days after birth compared to age-matched controls

• the EGL continues to thin with development from apoptosis until it disappears by 2 weeks after birth

abnormal inferior olivary complex morphology ( J:100997 )

• the inferior olivary nucleus and the pontine nuclei are absent in adults

• both structures are present at birth but regress 4 days later and disappear by 6 days after birth due to apoptosis

absent cerebellar lobules ( J:100997 )

• a small cerebellum without lobules is present in mice at postnatal day 4

absent cerebellum ( J:100997 )

• adults lack all cerebellar cortical layers

abnormal GABAergic neuron morphology ( J:100997 )

• GABA neurons fail to develop in the cerebellar ventricular zone

abnormal glutaminergic neuron morphology ( J:100997 )

• within the cerebellum rudiment, there are 2.3 fold less glutaminergic neurons compared to similar area in wild-type brain

behavior/neurological

tremors ( J:100997 )

• is observed in adults

ataxia ( J:100997 )

• occurs in adults

impaired coordination ( J:100997 )

• uncoordinated locomotion is observed in adults

growth/size/body

decreased body size ( J:100997 )

• body sizes are generally smaller than littermate controls

cellular

abnormal Purkinje cell differentiation ( J:100997 )

• purkinje cells fail to develop