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| Nomenclature |
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Symbol:
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PhexPug
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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);
pug
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MGI ID: |
MGI:3797014 |
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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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C57BL/6J
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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: 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)
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Inheritance: | |
Dominant |
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Phex Mutation:
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11 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
