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Pahenu1
Chemically induced Allele Detail
Nomenclature
Symbol: Pahenu1
Name: phenylalanine hydroxylase; phenylalanine hydroxylase enu 1
MGI ID: MGI:1857271
Synonyms: PAHenu2, Pahhph-5
Gene: Pah  Location: Chr10:87357657-87419998 bp, + strand  Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
Mutation
origin
Strain of Origin:  BTBR
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA T364C missense mutation in exon 3 results in a valine to alanine substitution at amino acid 106 (V106A). (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 Structures Affected by this Mutation: 1 anatomical structures
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 Pah Mutation:  28 strains or lines available
References
Original:  J:10355 McDonald JD, et al., Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase. Proc Natl Acad Sci U S A. 1990 Mar;87(5):1965-7
All:  8 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
11/23/2021
MGI 6.17
The Jackson Laboratory