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

Disease models

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: 29 reference(s)