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| Nomenclature |
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Symbol:
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Hpdhty
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Name:
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4-hydroxyphenylpyruvic acid dioxygenase;
hypertyrosinemia
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MGI ID: |
MGI:1856056 |
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Synonyms: |
Hpd- |
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Gene:
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Hpd
Location:
Chr5:123171807-123182725 bp, - strand
Genetic Position: Chr5,
62.82 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A "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)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Hpd Mutation:
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8 strains or lines available |
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| References |
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Original: |
J:14313
Katoh H et al.,
"Hereditary hypertyrosinemia mouse."
Mouse Genome 1991;89():572
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All: |
7 reference(s)
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Analysis Tools
