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Chemically induced Allele Detail
Symbol: PhexMhdabap012
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, PhexBAP012
Gene: Phex  Location: ChrX:157162075-157415312 bp, - strand  Genetic Position: ChrX, 72.38 cM
Strain of Origin:  C3HeB/FeJ
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  14 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
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