Rc3h1<san> Chemically induced Allele Detail MGI Mouse (MGI:3581675)

Rc3h1^san
Chemically induced Allele Detail

Summary

Symbol:	Rc3h1^san
Name:	RING CCCH (C3H) domains 1; sanroque
MGI ID:	MGI:3581675
Synonyms:	Roquin^san, San Roque
Gene:	Rc3h1 Location: Chr1:160733988-160802548 bp, + strand Genetic Position: Chr1, 69.75 cM
Alliance:	Rc3h1^san page

Chronic hepatitis in Rc3h1^san/Rc3h1^san 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 details: A 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	29 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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