Pah^enu1
Chemically induced Allele Detail

Summary

• Symbol: Pah^enu1
• Name: phenylalanine hydroxylase; phenylalanine hydroxylase enu 1
• MGI ID: MGI:1857271
• Synonyms: PAH^enu2, Pah^hph-5
• Gene: Pah Location: Chr10:87357657-87419998 bp, + strand Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
• Alliance: Pah^enu1 page

Mutation origin

• Strain of Origin: BTBR

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A T364C missense mutation in exon 3 results in a valine to alanine substitution at amino acid 106 (V106A). (J:38411)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 50 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)