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PhexSka1
Chemically induced Allele Detail
Summary
Symbol: PhexSka1
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: PhexSka1 page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsRT-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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 22 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: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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory