Aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16
- Institut Pasteur, Paris (France)
- Hopital Necker, Paris (France)
- Hopital Cochin, Paris (France)
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. The authors 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. 22 refs., 1 fig., 1 tab.
- OSTI ID:
- 6588975
- Journal Information:
- Genomics; (United States), Vol. 19:1; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
Similar Records
The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34
YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p