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Phenotypes Associated with This Genotype
Genotype
MGI:6501754
Allelic
Composition
Aldh1l2tm2e(KOMP)Wtsi/Aldh1l2tm2e(KOMP)Wtsi
Genetic
Background
involves: C57BL/6 * C57BL/6N
Cell Lines EPD0514_5_F12
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aldh1l2tm2e(KOMP)Wtsi mutation (0 available); any Aldh1l2 mutation (57 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• reduced ATP levels (mainly in mitochondria)
• reduced ATP levels in liver
• 40% reduction in NADPH and NADP+ levels
• normal NADP+ to NADPH ratio
• accumulation of acylcarnitines and decreased levels of intermediates of TCA cycle

homeostasis/metabolism
• accumulation of acylcarnitines and decreased levels of intermediates of TCA cycle
• 5.2-fold increase in cystine plasma levels
• reduced cysteinylglycine levels
• 5.6-fold reduction
• 8.3-fold reduction
• strongly reduced coenzyme A (CoA) levels
• increased levels of folic acid, dihydrofolate and 10-formyl-trihydrofolate
• normal total folate pool
• 5-fold reduction
• 1.7-fold increase in dehydroascorbate (oxidized vitamin C)
• 8-fold change in reduced/oxidized vitamin C ratio
• 40% reduction in NADPH and NADP+ levels
• normal NADP+ to NADPH ratio

liver/biliary system
N
• normal liver morphology (J:299012)
N
• normal liver histology (J:299012)
• increased fat deposits in hepatocytes

endocrine/exocrine glands
N
• normal pancreas morphology and histology

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

cardiovascular system
N
• normal heart morphology and histology

immune system
N
• normal spleen morphology and histology

behavior/neurological
N
• normal food intake

mortality/aging
N
• viable

nervous system
N
• normal brain morphology and histology

renal/urinary system
N
• normal kidney morphology and histology

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

respiratory system
N
• normal lung morphology and histology


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory