Phenotypes associated with this allele

• Allele Symbol: Dnm1l^tm1.2Hise
• Allele Name: targeted mutation 1.2, Hiromi Sesaki
• Allele ID: MGI:4366511
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnm1l^tm1.2Hise/Dnm1l^tm1.2Hise	involves: 129S/SvEv * C57BL/6 * FVB/N	MGI:4366519
cn2	Dnm1l^tm1.1Hise/Dnm1l^tm1.2Hise En1^tm2(cre)Wrst/En1^+	involves: 129 * C57BL/6 * FVB/N * SJL	MGI:4366518

Genotype
MGI:4366519

hm1

• Allelic Composition: Dnm1l^tm1.2Hise/Dnm1l^tm1.2Hise
• Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

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

Small size and internal hemorrhage in Dnm1l^tm1.2Hise/Dnm1l^tm1.2Hise embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:153835 )

• no viable mice are present at E11.5

cellular

abnormal mitochondrial morphology ( J:153835 )

• mouse embryonic fibroblasts contain highly connected, elongated mitochondrial tubules unlike wild-type cells

decreased apoptosis ( J:153835 )

• E9.5 and E10.5, neural tubes exhibit less apoptosis than in wild-type mice

• however, mouse embryonic fibroblasts exhibit normal levels of induced apoptosis in vitro

decreased fibroblast proliferation ( J:153835 )

• in mouse embryonic fibroblasts

cardiovascular system

internal hemorrhage ( J:153835 )

• at E11.5

abnormal myocardial fiber physiology ( J:153835 )

• isolated cardiomyocytes from E10.5 mice exhibit decreased beating rates compared with cells from E9.5 and E10.5 wild-type mice

embryo

decreased embryo size ( J:153835 )

• at E9.5, E10.5, and E11.5

absent trophoblast giant cells ( J:153835 )

growth/size/body

decreased embryo size ( J:153835 )

• at E9.5, E10.5, and E11.5

Genotype
MGI:4366518

cn2

• Allelic Composition: Dnm1l^tm1.1Hise/Dnm1l^tm1.2Hise; En1^tm2(cre)Wrst/En1⁺
• Genetic Background: involves: 129 * C57BL/6 * FVB/N * SJL

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