Pah^enu2
Chemically induced Allele Detail

Nomenclature

Symbol:	Pah^enu2
Name:	phenylalanine hydroxylase; phenylalanine hydroxylase enu 2
MGI ID:	MGI:1857272
Synonyms:	HPH5.1
Gene:	Pah  Location: Chr10:87521795-87584136 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 details: A T835C missense mutation in exon 7 results in a phenylalanine to serine substitution at amino acid 263 (F263S). (J:38411)
Inheritance:		Recessive

Disease models

Expression

In Mice Carrying this Mutation:

3 assay results

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:	5 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:	29 reference(s)