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| Nomenclature |
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Symbol:
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Rc3h1san
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Name:
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RING CCCH (C3H) domains 1;
sanroque
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MGI ID: |
MGI:3581675 |
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Synonyms: |
Roquinsan, San Roque |
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Gene:
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Rc3h1
Location:
Chr1:160906418-160974978 bp, + strand
Genetic Position: Chr1,
69.75 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6
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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: A T to G transversion caused a non-conservative Met199Arg substitution. The substitution is predicted to disrupt the local helical structure. (J:98938)
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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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Notes |
Phenotypic Similarity to Human Syndrome: angioimmunoblastic T-cell lymphoma (AITL) (J:189087)
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| References |
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Original: |
J:98938
Vinuesa CG et al.,
"A RING-type ubiquitin ligase family member required to repress follicular helper T cells and autoimmunity."
Nature 2005 May 26;435(7041):452-8
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All: |
11 reference(s)
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Analysis Tools
