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| Nomenclature |
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Symbol:
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PhexMhdabap012
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Name:
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phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets);
Martin Hrabe de Angelis bone alkaline phospatase mutant 012
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MGI ID: |
MGI:5424918 |
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Synonyms: |
bone alkaline phospatase mutant 012, PhexBAP012 |
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Gene:
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Phex
Location:
ChrX:157162075-157415312 bp, - strand
Genetic Position: ChrX,
72.38 cM
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Mutation
origin |
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Strain of Origin:
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C3HeB/FeJ
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
