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© Xavier Montagutelli, Institut Pasteur
Publication : Genomics

aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Genomics - 01 Jan 1994

Montagutelli X, Lalouette A, Coudé M, Kamoun P, Forest M, Guénet JL,

Link to Pubmed [PMID] – 8188247

Genomics 1994 Jan; 19(1): 9-11

Alkaptonuria is a human hereditary metabolic disease characterized by a very high urinary excretion of homogentisic acid, an intermediary product in the metabolism of tyrosine, in association with ochronosis and arthritis. This disease is due to a deficiency in the enzyme homogentisic acid oxidase and is inherited as an autosomal recessive condition. We have found a new recessive mutation (aku) in the mouse that is homologous to human alkaptonuria, during a mutagenesis program with ethylnitrosourea. Affected mice show high levels of urinary homogentisic acid without signs of ochronosis or arthritis. This mutation has been mapped to Chr 16 close to the D16Mit4 locus, in a region of synteny with human 3q.

https://pubmed.ncbi.nlm.nih.gov/8188247