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

Symbol: Ubr1tm1Avar Name: ubiquitin protein ligase E3 component n-recognin 1; targeted mutation 1, Alexander Varshavsky MGI ID: MGI:2178612 Synonyms: UBR1 - Gene: Ubr1  Location: Chr2:120690750-120801196 bp, - strand  Genetic Position: Chr2, 60.37 cM Alliance: Ubr1tm1Avar page

Abnormal development of the central nervous system in Ubr1tm1Avar/Ubr1tm1Avar Ubr2tm1Ytkw/Ubr2tm1Ytkw embryos Show the 3 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:72859
Parent Cell Line:	CJ7 (ES Cell)
Strain of Origin:	129S1/Sv-Oca2+ Tyr+ Kitl+

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Exons 4 through 6 were replaced by a neo cassette. This coding sequence in this region is highly conserved between S.cerevisiae and mouse, and includes amino acids found to be essential for the type 1 and type 2 substrate binding site. (J:72859)

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

In Structures Affected by this Mutation:

5 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ubr1 Mutation:	93 strains or lines available

Original:	J:72859 Kwon YT, et al., Construction and Analysis of Mouse Strains Lacking the Ubiquitin Ligase UBR1 (E3alpha) of the N-End Rule Pathway. Mol Cell Biol. 2001 Dec;21(23):8007-21
All:	6 reference(s)