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| Nomenclature |
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Symbol:
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Prss56glcr4
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Name:
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protease, serine 56;
glaucoma relevant mutation 4
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MGI ID: |
MGI:5444189 |
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Synonyms: |
Grm4, Prss56Grm4 |
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Gene:
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Prss56
Location:
Chr1:87186665-87188403 bp, + strand
Genetic Position: Chr1,
44.07 cM, cytoband C5
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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 induced a T to A transversion in exon 11, disrupting a splice donor site. This results in the retention of intron 11 in the transcript leading to a small insertion followed by a premature stop codon. Expression of the mRNA is higher in mutant eyes compared to wild-type eyes. (J:188765)
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Inheritance: | |
Recessive |
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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 Prss56 Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:188765
Nair KS et al.,
"Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice."
Nat Genet 2011 Jun;43(6):579-84
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All: |
1 reference(s)
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Analysis Tools
