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| Nomenclature |
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Symbol:
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Rs1tmgc1
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Name:
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retinoschisis (X-linked, juvenile) 1 (human);
Tennessee Mouse Genome Consortium 1
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MGI ID: |
MGI:2448640 |
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Synonyms: |
44TNJ |
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Gene:
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Rs1
Location:
ChrX:160768013-160799663 bp, + strand
Genetic Position: ChrX,
73.95 cM
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Mutation origin |
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Strain of Origin:
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C57BL/6JRn
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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: This phenotypic mutant was identified in an ENU mutagenesis screen. A C to T transition at the second base of intron 2 led to two novel splice variants. One mutant transcript contains a 10 bp deletion while the other has a 26 bp deletion, both leading to a frameshift mutation. (J:99982)
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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 Rs1 Mutation:
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2 strains or lines available |
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| References |
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Original: |
J:81149
The Tennessee Mouse Genome Consortium,
"Targeted mutagenesis of the mouse genome and neural phenotypes"
MGI Direct Data Submission 2003;():
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All: |
4 reference(s)
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