Phenotypes Associated with This Genotype

Genotype
MGI:4366517

• Allelic Composition: Dnm1l^tm1.1Hise/Dnm1l^tm1.1Hise; En1^tm2(cre)Wrst/En1⁺
• Genetic Background: involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

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

Defects in cerebellar development in Dnm1l^tm1.1Hise/Dnm1l^tm1.2Hise En1^tm2(cre)Wrst/En1⁺ and Dnm1l^tm1.2Hise/Dnm1l^tm1.2Hise En1^tm2(cre)Wrst/En1⁺ mice

cellular

abnormal Purkinje cell mitochondrial morphology ( J:153835 )

• mitochondria in Purkinje cells are enlarged compared to in wild-type cells

mortality/aging

postnatal lethality, complete penetrance ( J:153835 )

• mice die within 36 hours of birth

nervous system

abnormal cerebellum development ( J:153835 )

• at P0, cerebellum are smooth and exhibit a 60% decreased in size compared to in wild-type mice

reduced cerebellar foliation ( J:153835 )

• at P0, cerebellum lack foliation

• at P0.5, lobule fissures are barely detectable

abnormal cerebellar Purkinje cell layer ( J:153835 )

• Purkinje cells in the cerebellum are decreased in number and form a discontinuous cell layer unlike in wild-type mice

abnormal Purkinje cell mitochondrial morphology ( J:153835 )

• mitochondria in Purkinje cells are enlarged compared to in wild-type cells

decreased Purkinje cell number ( J:153835 )

• in the cerebellum

small cerebellum ( J:153835 )

• at P0, cerebellum are 60% smaller than in wild-type mice due to decreased cell proliferation

behavior/neurological

absent gastric milk in neonates ( J:153835 )

• mice die without milk in their stomach

• however, mice exhibit normal swallowing when manually fed milk