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Chemically induced Allele Detail
Symbol: Hgdaku
Name: homogentisate 1, 2-dioxygenase; alkaptonuria
MGI ID: MGI:1856664
Gene: Hgd  Location: Chr16:37580153-37632020 bp, + strand  Genetic Position: Chr16, 26.4 cM
Liver disease in Fahtm1Mgo/Fahtm1Mgo mice and liver histology of Fahtm1Mgo/Fahtm1Mgo Hgdaku/Hgdaku and Fahtm1Mgo/Fahtm1Mgo Hgdaku/Hgd+ mice after treatment with the drug NTCB

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

Strain of Origin:  multiple recessive stock
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThe mutation is a GT to GA change at the splice donor consensus sequence of the intron following nt1178 of the cDNA. This results in skipping either the 5' exon or both the 5' and 3' exons. Both situations would result in a frame shift and production of a truncated protein. (J:54724)
Inheritance:    Recessive
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Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Hgd Mutation:  4 strains or lines available
Original:  J:16506 Montagutelli X, et al., aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16 [see comments]. Genomics. 1994 Jan 1;19(1):9-11
All:  7 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory