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Ubr1tm1Avar
Targeted Allele Detail
Summary
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.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:72859
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 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)
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: 5 anatomical structure(s)
Find Mice (IMSR)
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:  94 strains or lines available
References
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:  7 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
11/12/2024
MGI 6.24
The Jackson Laboratory