Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Rbck1tm1Kiwa
Name:	RanBP-type and C3HC4-type zinc finger containing 1; targeted mutation 1, Kazuhiro Iwai
MGI ID:	MGI:5000222
Synonyms:	HOIL-1L-
Gene:	Rbck1  Location: Chr2:152158254-152174573 bp, - strand  Genetic Position: Chr2, 74.83 cM
Alliance:	Rbck1tm1Kiwa page

Germline Transmission:	Earliest citation of germline transmission: J:158069
Parent Cell Line:	TT2 (ES Cell)
Strain of Origin:	(C57BL/6NCrlj x CBA/JNCrlj)F1

Allele Type:    Targeted (Modified isoform(s)) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 7 and 8 were replaced with a neomycin selection cassette. The absence of protein expression was confirmed by western blot analysis on liver extracts using antibody to the C-terminal part of the protein. Subsequent studies showed that an N-terminal portion of the protein containing the UBL domain was still present, possibly the product of a splice variant of the gene not affected by the mutation, or because of incomplete nonsense-mediated mRNA decay (NMD). (J:158069, J:334038)

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

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Rbck1 Mutation:	41 strains or lines available

Original:	J:158069 Tokunaga F, et al., Involvement of linear polyubiquitylation of NEMO in NF-kappaB activation. Nat Cell Biol. 2009 Feb;11(2):123-32
All:	8 reference(s)