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| Nomenclature |
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Symbol:
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MipHfi
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Name:
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major intrinsic protein of eye lens fiber;
hydropic fibers
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MGI ID: |
MGI:1856608 |
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Synonyms: |
538 |
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Gene:
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Mip
Location:
Chr10:128225838-128231812 bp, + strand
Genetic Position: Chr10,
76.49 cM, cytoband D1
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Mutation
origin |
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Strain of Origin:
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(101 x C3H)F1
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Mutation
description |
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Allele
Type: | |
Radiation induced |
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Mutation: | |
Intragenic deletion |
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Mutation details: A 76 bp deletion that removes 17 bp from the 3' end of exon 2 and 59 bp of intron 2. In the encoded mRNA, 165 bp of coding sequence is removed resulting from exon 2 being skipped during the splicing process. By immunoblot analysis on lens cell memebrane preparations, a smaller mutant protein was detected in homozygous mutant mice, although at lower levels that the wild-type protein. (J:70225)
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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 Mip Mutation:
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19 strains or lines available |
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| References |
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Original: |
J:14285
Kratochvilova J,
"Allelism tests of 15 autosomal cataract mutations."
Mouse Genome 1990;86():249-50
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All: |
3 reference(s)
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Analysis Tools
