Pah^enu2
Chemically induced Allele Detail

Summary

• Symbol: Pah^enu2
• 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: Pah^enu2 page

Mutation origin

• Strain of Origin: BTBR

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A c.788T>C mutation in exon 7 results in a phenylalanine to serine substitution at amino acid 263 (p.F263S). (J:38411)
• Inheritance: Recessive

Disease models

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: 50 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)