Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Pahm1Btlr
Name:	phenylalanine hydroxylase; mutation 1, Bruce Beutler
MGI ID:	MGI:4361841
Synonyms:	bronze
Gene:	Pah  Location: Chr10:87357657-87419998 bp, + strand  Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
Alliance:	Pahm1Btlr page

Strain of Origin:	C57BL/6J
Project Collection:	Beutler Mutagenetix

Allele Type:    Chemically induced (ENU) Mutation:    Single point mutation   Mutation details: This mutation comprises a T to C transition at nucleotide position 70 of the mRNA sequence, in the segment transcribed from the seventh of the gene's 13 exons. It results in the replacement of leucine by proline at amino acid position 242 of the protein (L242P). (J:152890) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	49 strains or lines available

Original:	J:152890 Siggs OM, et al., Record for bronze, updated 15 Sept 2009 (Accessed 2 Oct 2009). MGI Direct Data Submission. 2009;
All:	1 reference(s)