Phenotypes associated with this allele

• Allele Symbol: Acadvl^tm1Uab
• Allele Name: targeted mutation 1, University of Alabama
• Allele ID: MGI:2180080
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Acadvl^tm1Uab/Acadvl^tm1Uab	involves: 129S6/SvEvTac * C57BL/6	MGI:2446598
cx2	Acadl^tm1Uab/Acadl^tm1Uab Acadvl^tm1Uab/Acadvl^tm1Uab	involves: 129S6/SvEvTac * C57BL/6NTac	MGI:3829074

Genotype
MGI:2446598

hm1

• Allelic Composition: Acadvl^tm1Uab/Acadvl^tm1Uab
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

homeostasis/metabolism

increased circulating carnitine level ( J:72193 )

• C16 and C18 acylcarnitines are elevated in bile, blood, and serum of fasted mutants

abnormal lipid homeostasis ( J:72193 )

• mild lipid accumulation in the heart is seen in fasted mutants

abnormal enzyme/coenzyme activity ( J:72193 )

• mild reduction in mitochondrial acyl-CoA dehydrogenase activity toward palmitoyl-CoA and oleoyl-CA in the liver

liver/biliary system

hepatic steatosis ( J:72193 )

• fasted mice display mild steatosis, with droplets of varying sizes in many hepatocytes

cardiovascular system

abnormal heart morphology ( J:72193 )

• fasted mice display a mild, diffuse fatty change in hearts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
very long chain acyl-CoA dehydrogenase deficiency		DOID:0080155	OMIM:201475	J:72193

Genotype
MGI:3829074

cx2

• Allelic Composition: Acadl^tm1Uab/Acadl^tm1Uab; Acadvl^tm1Uab/Acadvl^tm1Uab
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

mortality/aging

postnatal lethality ( J:72193 )

• partially cannibalized pups are observed, indicating loss occurs as late as the periparturient period