Akr1b1^tm1.1Kgab
Targeted Allele Detail

Summary

• Symbol: Akr1b1^tm1.1Kgab
• Name: aldo-keto reductase family 1 member B; targeted mutation 1.1, Kenneth H Gabbay
• MGI ID: MGI:5008171
• Synonyms: AR^-
• Gene: Akr1b1 Location: Chr6:34280865-34294424 bp, - strand Genetic Position: Chr6, 14.87 cM, cytoband B1
• Alliance: Akr1b1^tm1.1Kgab page

"Rachitic rosary" phenotype of Gulo^tm1Mae/Gulo^tm1Mae and Akr1b1^tm1.1Kgab/Akr1b1^tm1.1Kgab Akr1a1^{Gt(OST222400)Lex}/Akr1a1^{Gt(OST222400)Lex} bones

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:164548
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

Allele Type: Targeted (Null/knockout) Mutations: Insertion, Intragenic deletion Mutation details: Exon 9 was replaced with a floxed exon 9, which contained nucleotide substitutions that result in the amino acid substitution of leucine for valine at position 280 (V280L) and valine for cysteine at position 298 (C298V), and an FRT-flanked neo cassette. Cre mediated recombination removed exon 9. (J:164548)

Schemata for the generation of the Akr1b1^tm1.1Kgab allele

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Akr1b1 Mutation: 27 strains or lines available

References

• Original: J:164548 Gabbay KH, et al., Ascorbate synthesis pathway: dual role of ascorbate in bone homeostasis. J Biol Chem. 2010 Jun 18;285(25):19510-20
• All: 4 reference(s)