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Pahenu2
Chemically induced Allele Detail
Summary
Symbol: Pahenu2
Name: phenylalanine hydroxylase; phenylalanine hydroxylase enu 2
MGI ID: MGI:1857272
Synonyms: HPH5.1
Gene: Pah  Location: Chr10:87357657-87419998 bp, + strand  Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
Alliance: Pahenu2 page
Mutation
origin
Strain of Origin:  BTBR
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA c.788T>C mutation in exon 7 results in a phenylalanine to serine substitution at amino acid 263 (p.F263S). (J:38411)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 3 assay results
In Structures Affected by this Mutation: 5 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Pah Mutation:  49 strains or lines available
References
Original:  J:13320 Shedlovsky A, et al., Mouse models of human phenylketonuria. Genetics. 1993 Aug;134(4):1205-10
All:  49 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory