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| Nomenclature |
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Symbol:
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NhsXcat
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Name:
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Nance-Horan syndrome (human);
X-linked cataract
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MGI ID: |
MGI:1861111 |
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Synonyms: |
D-454 |
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Gene:
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Nhs
Location:
ChrX:161833296-162159730 bp, - strand
Genetic Position: ChrX,
74.17 cM
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Radiation induced |
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Mutation: | |
Insertion |
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Mutation details: A 487 kb insertion into the gene between exons 1 and 2 disrupts the expression of a transcript containing exon 1. The insertion appears to be a duplication and translocation of a more proximal region of chromosome X. A transcript is expressed from an alternate promoter of the gene and results in a protein product that lacks cytoplasmic localization signals and is transported to the nucleus. Total transcript levels are also reduced. (J:104492)
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Inheritance: | |
Semidominant |
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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 Nhs Mutation:
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10 strains or lines available |
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Notes |
The X-linked cataract mutation Xcat was found among offspring of an irradiated male in a dominant cataract mutation rate experiment.
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| References |
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Original: |
J:14118
Favor J et al.,
"Position of Xcat, a new X-linked cataract mutation."
Mouse News Lett 1987;77():139
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All: |
8 reference(s)
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Analysis Tools
