Phex^Pug
Chemically induced Allele Detail

Summary

• Symbol: Phex^Pug
• Name: phosphate regulating endopeptidase homolog, X-linked; pug
• MGI ID: MGI:3797014
• Gene: Phex Location: ChrX:155945071-156198282 bp, - strand Genetic Position: ChrX, 72.38 cM
• Alliance: Phex^Pug page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis created a T to C transition at nucletide 239 that resulted in an amino acid substitution of serine for phenylalanine at position 80 (F80S). This mutation is located within a potential glycosylation motif. (J:136463, J:136796)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Phex Mutation: 21 strains or lines available

References

• Original: J:136463 Xiong X, et al., A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice. J Biomed Sci. 2008 Jan;15(1):47-59
• All: 2 reference(s)