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| Nomenclature |
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Symbol:
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PhexSka1
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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);
skeletal abnormality 1
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MGI ID: |
MGI:2429767 |
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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/6
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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: 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)
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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: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
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All: |
1 reference(s)
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Analysis Tools
