Phenotypes associated with this allele

• Allele Symbol: Them5^tm1Hem
• Allele Name: targeted mutation 1, Brian A Hemmings
• Allele ID: MGI:5433219
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Them5^tm1Hem/Them5^tm1Hem	involves: 129P2/OlaHsd * C57BL/6	MGI:5433223

Genotype
MGI:5433223

hm1

• Allelic Composition: Them5^tm1Hem/Them5^tm1Hem
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

cellular

abnormal mitochondrial morphology ( J:186657 )

• mitochondrial lipids are modified

• 2 fold increase in monolysocardiolipins (even greater effect in heterozygotes)

abnormal mitochondrial shape ( J:186657 )

• formation of highly interconnected networks

increased mitochondrial size ( J:186657 )

• 2 fold increase in volume

abnormal cellular respiration ( J:186657 )

• decreased "state 3" and "state 4" respiration in mitochondria

• respiratory control ratio is lower in liver mitochondria

• rates of electron transfer are reduced

• 50% decrease in maximal respiratory rates

abnormal respiratory electron transport chain ( J:186657 )

• rates of electron transfer are reduced

homeostasis/metabolism

increased circulating free fatty acids level ( J:186657 )

• free fatty acids in plasma are increased

• exacerbated on a high fat diet

decreased fatty acids level ( J:186657 )

• 2 fold loss of free fatty acids in mitochondria, particularly linoleic and linolenic acids

liver/biliary system

hepatic steatosis ( J:186657 )

• develop fatty livers