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| Nomenclature |
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Symbol:
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Hgdaku
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Name:
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homogentisate 1, 2-dioxygenase;
alkaptonuria
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MGI ID: |
MGI:1856664 |
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Gene:
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Hgd
Location:
Chr16:37580153-37632020 bp, + strand
Genetic Position: Chr16,
26.4 cM
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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 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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multiple recessive stock
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
7 reference(s)
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Analysis Tools
