Pah^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Pah^m1Btlr
• 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: Pah^m1Btlr page

Mutation origin

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

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

2 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: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)