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Rc3h1san
Chemically induced Allele Detail
Summary
Symbol: Rc3h1san
Name: RING CCCH (C3H) domains 1; sanroque
MGI ID: MGI:3581675
Synonyms: Roquinsan, San Roque
Gene: Rc3h1  Location: Chr1:160733988-160802548 bp, + strand  Genetic Position: Chr1, 69.75 cM
Alliance: Rc3h1san page
Chronic hepatitis in Rc3h1san/Rc3h1san mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6JSfdAnu
Project Collection: APF ENU Mutagenesis
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA T to G transversion caused a non-conservative Met199Arg substitution. The substitution is predicted to disrupt the local helical structure. (J:98938)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 14 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 7 strains available      Cell Lines: 0 lines available
Carrying any Rc3h1 Mutation:  42 strains or lines available
References
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
All:  28 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory