Phex^Mhdabap012
Chemically induced Allele Detail

Summary

• Symbol: Phex^Mhdabap012
• Name: phosphate regulating endopeptidase homolog, X-linked; Martin Hrabe de Angelis bone alkaline phospatase mutant 012
• MGI ID: MGI:5424918
• Synonyms: bone alkaline phospatase mutant 012, Phex^BAP012
• Gene: Phex Location: ChrX:155945071-156198282 bp, - strand Genetic Position: ChrX, 72.38 cM
• Alliance: Phex^Mhdabap012 page

Mutation origin

• Strain of Origin: C3HeB/FeJ

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen for metabolic bone disease as part of the Munich ENU Mutagenesis Project. This mutation is a nonsense mutation in exon 2 of the gene; an A-to-T point mutation at position 148 of the cDNA is predicted to alter codon 50 in the encoded protein from a lysine to a stop codon. (J:183993)

Disease models

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 Phex Mutation: 22 strains or lines available

References

• Original: J:183993 Sabrautzki S, et al., New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis. Mamm Genome. 2012 Aug;23(7-8):416-30
• All: 1 reference(s)