Phenotypes Associated with This Genotype

Genotype
MGI:6501754

• Allelic Composition: Aldh1l2^{tm2e(KOMP)Wtsi}/Aldh1l2^{tm2e(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6 * C57BL/6N
• Cell Lines: EPD0514_5_F12

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

cellular

abnormal cell physiology ( J:299012 )

♂ • reduced ATP levels (mainly in mitochondria)

♂ • reduced ATP levels in liver

♂ • 40% reduction in NADPH and NADP+ levels

♂ • normal NADP+ to NADPH ratio

decreased fatty acid beta-oxidation ( J:299012 )

♂ • accumulation of acylcarnitines and decreased levels of intermediates of TCA cycle

homeostasis/metabolism

decreased fatty acid beta-oxidation ( J:299012 )

♂ • accumulation of acylcarnitines and decreased levels of intermediates of TCA cycle

abnormal folic acid level ( J:299012 )

♂ • increased levels of folic acid, dihydrofolate and 10-formyl-trihydrofolate

♂ • normal total folate pool

decreased glutathione level ( J:299012 )

♂ • 8.3-fold reduction

abnormal amino acid level ( J:299012 )

♂ • 5.2-fold increase in cystine plasma levels

♂ • reduced cysteinylglycine levels

decreased cystathionine level ( J:299012 )

♂

decreased cysteine level ( J:299012 )

♂ • 5.6-fold reduction

abnormal enzyme/coenzyme level ( J:299012 )

♂ • strongly reduced coenzyme A (CoA) levels

abnormal vitamin C level ( J:299012 )

♂ • 5-fold reduction

♂ • 1.7-fold increase in dehydroascorbate (oxidized vitamin C)

♂ • 8-fold change in reduced/oxidized vitamin C ratio

abnormal metabolism ( J:299012 )

♂ • 40% reduction in NADPH and NADP+ levels

♂ • normal NADP+ to NADPH ratio

liver/biliary system

liver/biliary system phenotype ( J:299012 )

N • normal liver morphology

hepatic steatosis ( J:299012 )

♂ • increased fat deposits in hepatocytes

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:299012 )

N • normal pancreas morphology and histology

growth/size/body

growth/size/body region phenotype ( J:299012 )

N • normal body weight at weaning and age 6 months and normal growth

cardiovascular system

cardiovascular system phenotype ( J:299012 )

N • normal heart morphology and histology

immune system

immune system phenotype ( J:299012 )

N • normal spleen morphology and histology

behavior/neurological

behavior/neurological phenotype ( J:299012 )

N • normal food intake

mortality/aging

mortality/aging ( J:299012 )

N • viable

nervous system

nervous system phenotype ( J:299012 )

N • normal brain morphology and histology

renal/urinary system

renal/urinary system phenotype ( J:299012 )

N • normal kidney morphology and histology

reproductive system

reproductive system phenotype ( J:299012 )

N • fertile, normal litter size, normal Mendelian inheritance ratio

respiratory system

respiratory system phenotype ( J:299012 )

N • normal lung morphology and histology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
metabolic dysfunction-associated steatotic liver disease		DOID:0080208	OMIM:613282 OMIM:613387	J:299012