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| Nomenclature |
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Symbol:
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Pahenu2
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Name:
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phenylalanine hydroxylase;
phenylalanine hydroxylase enu 2
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MGI ID: |
MGI:1857272 |
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Synonyms: |
HPH5.1 |
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Gene:
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Pah
Location:
Chr10:87521795-87584136 bp, + strand
Genetic Position: Chr10,
43.64 cM, cytoband C2-D1
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Mutation
origin |
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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: A T835C missense mutation in exon 7 results in a phenylalanine to serine substitution at amino acid 263 (F263S). (J:38411)
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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:13320
Shedlovsky A et al.,
"Mouse models of human phenylketonuria."
Genetics 1993 Aug;134(4):1205-10
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All: |
28 reference(s)
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Analysis Tools
