Phenotypes associated with this allele

• Allele Symbol: Coq7^tm1Tsh
• Allele Name: targeted mutation 1, Takuji Shirsawa
• Allele ID: MGI:2158322
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Coq7^tm1Tsh/Coq7^tm1Tsh	involves: C57BL/6	MGI:3823219

Genotype
MGI:3823219

hm1

• Allelic Composition: Coq7^tm1Tsh/Coq7^tm1Tsh
• Genetic Background: involves: C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:73111 )

• homozygous embryos failed to survive beyond E10.5

embryo

decreased embryo size ( J:73111 )

• homozygous embryos were 20 times smaller than wild type or heterozygous litter mates

abnormal embryonic neuroepithelial layer differentiation ( J:73111 )

• loss of organized neuroepithelial structures in the entire cerebral wall at E10.5

open neural tube ( J:73111 )

• neural tubes were still open at E10.5 in live homozygous embryos

growth/size/body

decreased embryo size ( J:73111 )

• homozygous embryos were 20 times smaller than wild type or heterozygous litter mates

nervous system

abnormal embryonic neuroepithelial layer differentiation ( J:73111 )

• loss of organized neuroepithelial structures in the entire cerebral wall at E10.5

open neural tube ( J:73111 )

• neural tubes were still open at E10.5 in live homozygous embryos

cellular

abnormal mitochondrial morphology ( J:73111 )

• abnormally enlarged mitochondria with vesicular cristae in the cells cerebral wall at E10.5

abnormal lysosome morphology ( J:73111 )

• enlarged lysosome filled with disrupted membrane structures of intracellular organelles

decreased cell proliferation ( J:73111 )

• primary embryonic cells from homozygous embryos poorly proliferated in culture

• in serum-free medium, primary embryonic cells from homozygous embryos failed to survive till day 6 in culture

abnormal aerobic respiration ( J:73111 )

• abolished CoQ synthesis resulting in accumulation of demethoxyubiquinone 9