Phenotypes Associated with This Genotype

Genotype
MGI:5300503

• Allelic Composition: Skor2^{Tn(sb-Tyr)1799B.CA7Ove}/Skor2^{Tn(sb-Tyr)1799B.CA7Ove}
• Genetic Background: involves: FVB/N

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:178818 )

• most mice die within 48 hours of birth

nervous system

abnormal Purkinje cell differentiation ( J:178818 )

decreased cerebellar granule cell precursor proliferation ( J:178818 )

• reduced proliferating cells in the external granule cell layer at P0 and P5

abnormal cerebellum development ( J:178818 )

abnormal cerebellar foliation ( J:178818 )

• abnormal foliation in serial sagittal sections through the vermis

abnormal cerebellar lobule formation ( J:178818 )

• lobes 4 through 5 fail to develop

• lobes 6 through 8 do not divide normally into sublobes

reduced cerebellar foliation ( J:178818 )

• at P0, the four principal fissures are absent

thin cerebellar molecular layer ( J:178818 )

• at P10 and 2 months

small cerebellum ( J:178818 )

• at P0 and through postnatal development and to adulthood

• the central vermis is severely reduced in size

• however, the lateral cerebellar hemispheres are relatively unaffected

abnormal neuromuscular synapse morphology ( J:178818 )

behavior/neurological

abnormal gait ( J:178818 )

• in surviving mice

cellular

abnormal Purkinje cell differentiation ( J:178818 )

decreased cerebellar granule cell precursor proliferation ( J:178818 )

• reduced proliferating cells in the external granule cell layer at P0 and P5

growth/size/body

decreased body size ( J:178818 )

• in surviving mice

respiratory system

respiratory failure ( J:178818 )