Phex^Ska1
Chemically induced Allele Detail

Summary

• Symbol: Phex^Ska1
• Name: phosphate regulating endopeptidase homolog, X-linked; skeletal abnormality 1
• MGI ID: MGI:2429767
• Gene: Phex Location: ChrX:155945071-156198282 bp, - strand Genetic Position: ChrX, 72.38 cM
• Alliance: Phex^Ska1 page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: RT-PCR identified a transcript lacking 84 nucleotides corresponding to exon 8. Sequencing of genomic DNA revealed point mutations of the first nucleotide pair in intron 8 (CG to TA), which resulted in the disruption of the splice donor site and consequent skipping of exon 8. (J:79953)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

21 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: 22 strains or lines available

References

• Original: J:79953 Carpinelli MR, et al., An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. Am J Pathol. 2002 Nov;161(5):1925-33
• All: 1 reference(s)