Hgd^aku
Chemically induced Allele Detail

Summary

• Symbol: Hgd^aku
• Name: homogentisate 1, 2-dioxygenase; alkaptonuria
• MGI ID: MGI:1856664
• Gene: Hgd Location: Chr16:37400515-37452382 bp, + strand Genetic Position: Chr16, 26.4 cM
• Alliance: Hgd^aku page

Liver disease in Fah^tm1Mgo/Fah^tm1Mgo mice and liver histology of Fah^tm1Mgo/Fah^tm1Mgo Hgd^aku/Hgd^aku and Fah^tm1Mgo/Fah^tm1Mgo Hgd^aku/Hgd⁺ mice after treatment with the drug NTCB

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

Mutation origin

• Strain of Origin: multiple recessive stock

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The 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

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• 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: 28 strains or lines available

References

• 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: 8 reference(s)