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| Nomenclature |
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Symbol:
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MipCat-Lop
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Name:
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major intrinsic protein of eye lens fiber;
cataract lens opacity
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MGI ID: |
MGI:1857105 |
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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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STOCK Rb(6.15)1Ald
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Mutation description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A G to C transversion at position 151 of the encoded mRNA results in a non-conservative change at amino acid 51 from alanine to proline. This mutation inhibits targeting of the mutant product to the cell membrane. (J:31574)
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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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| References |
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Original: |
J:6702
Lyon MF et al.,
"Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse."
Genet Res 1981 Dec;38(3):337-41
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All: |
2 reference(s)
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