Phenotypes associated with this allele

• Allele Symbol: Cluh^tm1.2Eir
• Allele Name: targeted mutation 1.2, Elena I Rugarli
• Allele ID: MGI:6119581
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cluh^tm1.2Eir/Cluh^tm1.2Eir	involves: BALB/cJ * C57BL/6 * SJL	MGI:6119618

Genotype
MGI:6119618

hm1

• Allelic Composition: Cluh^tm1.2Eir/Cluh^tm1.2Eir
• Genetic Background: involves: BALB/cJ * C57BL/6 * SJL

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

cellular

cellular phenotype ( J:249661 )

N • morphology of mitochondrial cristae in liver and heart

abnormal hepatocyte mitochondrial morphology ( J:249661 )

• prominent mitochondrial clustering in liver

abnormal mitochondrial matrix morphology ( J:249661 )

• drastically reduced matrix density

abnormal tricarboxylic acid cycle ( J:249661 )

• around 50% reduction in isocitrate dehydrogenase (IDH) and fumarate hydratase activity in liver

embryo

embryo phenotype ( J:249661 )

N • embryos survive and are found at expected Mendelian ratios when delivered by C-section at E18.5

N • embryos breathe normally when delivered by C-section at E18.5

N • morphology of liver, lungs, heart and kidneys of embryos delivered by C-section at E18.5

decreased embryo weight ( J:249661 )

• 10-15% lower weight of embryos delivered by C-section at E18.5

growth/size/body

growth/size/body region phenotype ( J:249661 )

N • morphology of liver, lungs, heart and kidneys of embryos delivered by C-section at E18.5

decreased embryo weight ( J:249661 )

• 10-15% lower weight of embryos delivered by C-section at E18.5

decreased body weight ( J:249661 )

• 10-15% lower weight of embryos delivered by C-section at E18.5

homeostasis/metabolism

abnormal homeostasis ( J:249661 )

• accumulation of proline, hydroxyproline, l-methionine, isobutyrylcarnitine and isovalerylcarnitine in liver of embryos delivered by C-section at E18.5 and starved for 4 hours

• increased levels of succinate and taurochenodeoxycholic acid in liver of embryos delivered by C-section at E18.5 and starved for 4 hours

decreased fasting circulating glucose level ( J:249661 )

• in embryos delivered by C-section at E18.5 and starved for 4 hours

liver/biliary system

abnormal hepatocyte mitochondrial morphology ( J:249661 )

• prominent mitochondrial clustering in liver

abnormal liver physiology ( J:249661 )

• reduction in activity of respiratory complexes I-IV in liver lysates

• accumulation of proline, hydroxyproline, l-methionine, isobutyrylcarnitine and isovalerylcarnitine in liver of embryos delivered by C-section at E18.5 and starved for 4 hours

mortality/aging

mortality/aging ( J:249661 )

N • embryos survive and are found at expected Mendelian ratios when delivered by C-section at E18.5

neonatal lethality, complete penetrance ( J:249661 )

• no pups found at weaning age

• dead pups found at P0-1

respiratory system

respiratory system phenotype ( J:249661 )

N • embryos breathe normally when delivered by C-section at E18.5