Phenotypes associated with this allele

• Allele Symbol: Acad8^m1Ytc
• Allele Name: mutation 1, Yuan-Tsong Chen
• Allele ID: MGI:5693896
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Acad8^m1Ytc/Acad8^m1Ytc	involves: C57BL/6	MGI:5693937

Genotype
MGI:5693937

hm1

• Allelic Composition: Acad8^m1Ytc/Acad8^m1Ytc
• Genetic Background: involves: C57BL/6

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:222356 )

N • mice exhibit normal glycemia, glucose tolerance and respiratory exchange ratio

impaired adaptive thermogenesis ( J:222356 )

• cold-exposed mice exhibit a drop in rectal temperature unlike wild-type mice

abnormal circulating amino acid level ( J:222356 )

• mice exhibit elevated C4 short-chain acylcarnitine levels compared with wild-type mice

• however, all other short-, medium- and long-chain acylcarnitines and blood amino acid levels are normal

decreased circulating carnitine level ( J:222356 )

• mice exhibit reduced in blood-free carnitine compared with wild-type mice

abnormal circulating enzyme level ( J:222356 )

• at 40 weeks, mice exhibit elevated serum glutamic oxaloacetic transaminase levels and decreased serum glutamic pyruvate transaminase levels compared with wild-type mice

increased oxygen consumption ( J:222356 )

• following injection with noradrenaline, mice fail to exhibit an increase in oxygen consumption above resting levels unlike wild-type mice

abnormal urine homeostasis ( J:222356 )

• isobutyryl-glycine in the urine

cellular

abnormal mitochondrial morphology ( J:222356 )

• swollen and rounded or elongated and multilamellar

• paracrystalline inclusion bodies in some mitochondria, more so in hepatocytes at 12 weeks

abnormal hepatocyte mitochondrial morphology ( J:222356 )

• at 12 weeks, stacks of paracrystalline inclusion bodies are observed in a high percentage of mitochondria in hepatocytes

• by 30 weeks, hepatocytes exhibit increased mitochondrial damage in the form of concentric cristae with amorphous matrix and formation of autophagosomes unlike in wild-type mice

abnormal mitochondrial crista morphology ( J:222356 )

• loss of cristae

abnormal mitochondrial matrix morphology ( J:222356 )

• electron dense osmiophilic granules within the matrix

liver/biliary system

abnormal hepatocyte mitochondrial morphology ( J:222356 )

• at 12 weeks, stacks of paracrystalline inclusion bodies are observed in a high percentage of mitochondria in hepatocytes

• by 30 weeks, hepatocytes exhibit increased mitochondrial damage in the form of concentric cristae with amorphous matrix and formation of autophagosomes unlike in wild-type mice

macrovesicular hepatic steatosis ( J:222356 )

• macrovesicular steatosis with foci of mononuclear cell infiltration at 40 weeks

microvesicular hepatic steatosis ( J:222356 )

• microvesicular steatosis as early as 4 weeks that progresses to macrovesicular steatosis with mononuclear cells infiltration by 12 weeks

renal/urinary system

abnormal urine homeostasis ( J:222356 )

• isobutyryl-glycine in the urine

adipose tissue

decreased brown fat cell lipid droplet size ( J:222356 )