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

Journal Article · Sat Jan 01 04:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1004· OSTI ID:6588975

Montagutelli, X; Lalouette, A; Guenet, J L ^[1]; Coude, M; Kamoun, P ^[2]; Forest, M ^[3]

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1. Institut Pasteur, Paris (France)
2. Hopital Necker, Paris (France)
3. 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), Journal Name: Genomics; (United States) Vol. 19:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
BIOLOGICAL MODELS
CARBOXYLIC ACIDS
CHROMOSOMES
DISEASES
ENZYMES
GENETIC MAPPING
HYDROXY ACIDS
MAPPING
METABOLIC DISEASES
METABOLISM
ORGANIC ACIDS
ORGANIC COMPOUNDS
OXIDOREDUCTASES
PROTEINS
TYROSINE