|Institutional Source||Beutler Lab|
|Gene Name||aldo-keto reductase family 1, member B3 (aldose reductase)|
|Synonyms||Ahr-1, Aldor1, Ahr1, ALR2, Aldr1, AR|
|Essential gene?||Probably non essential (E-score: 0.232)|
|Stock #||R5513 (G1)|
|Chromosomal Location||34302434-34317478 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||C to A at 34316646 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000100045 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102980] [ENSMUST00000154655]|
AA Change: D24Y
AA Change: D24Y
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (59/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased drinking, increased urination, and dilation of the renal tubules. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akr1b3||
(F):5'- GGAAACAAAAGCCGCACTTG -3'
(R):5'- GAGGGCCAGATACATCATAGTG -3'
(F):5'- CTACTGGCTTAGATACACGTTCTGAG -3'
(R):5'- GGCCAGATACATCATAGTGAAATAC -3'