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Hpdhty
Spontaneous Allele Detail
Nomenclature
Symbol: Hpdhty
Name: 4-hydroxyphenylpyruvic acid dioxygenase; hypertyrosinemia
MGI ID: MGI:1856056
Synonyms: Hpd-
Gene: Hpd  Location: Chr5:123171807-123182725 bp, - strand  Genetic Position: Chr5, 62.82 cM
Mutation
origin
Strain of Origin:  ICRIII
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA "C to T" transition in exon 7 creates a premature (TGA Termination codon. Mouse mRNA lacks exon 7 (90 nucleotides in length). Only negligible amounts of truncated protein are produced in the liver. (J:22863)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Hpd Mutation:  5 strains or lines available
References
Original:  J:14313 Katoh H, et al., Hereditary hypertyrosinemia mouse. Mouse Genome. 1991;89:572
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory