Phenotypes associated with this allele

• Allele Symbol: Akr1a1^tm1Maka
• Allele Name: targeted mutation 1, Masato Kasuga
• Allele ID: MGI:5439954
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Akr1a1^tm1Maka/Akr1a1^tm1Maka	B6.Cg-Akr1a1^tm1Maka	MGI:5439957
ht2	Akr1a1^tm1Maka/Akr1a1^+	B6.Cg-Akr1a1^tm1Maka	MGI:5439958

Genotype
MGI:5439957

hm1

• Allelic Composition: Akr1a1^tm1Maka/Akr1a1^tm1Maka
• Genetic Background: B6.Cg-Akr1a1^tm1Maka

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

homeostasis/metabolism

abnormal vitamin C level ( J:188043 )

• in the liver, kidney and plasma of mice fed a diet deficient in ascorbic acid

• however, ascorbic acid levels are rescued by over-expression of the human cDNA

abnormal enzyme/coenzyme activity ( J:188043 )

• reduced DL-glyceraldehyde, glucuronolactone and glucuronate reductase activity in the liver and kidney

• however, reductase activity is rescued by over-expression of the human cDNA

Genotype
MGI:5439958

ht2

• Allelic Composition: Akr1a1^tm1Maka/Akr1a1⁺
• Genetic Background: B6.Cg-Akr1a1^tm1Maka

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:188043 )

• reduced glucuronolactone and glucuronate reductase activity in the liver and kidney

• reduced DL-glyceraldehyde activity in the kidney