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Bard1tm2.1Rjbr
Targeted Allele Detail
Summary
Symbol: Bard1tm2.1Rjbr
Name: BRCA1 associated RING domain 1; targeted mutation 2.1, Richard J Baer
MGI ID: MGI:6399951
Synonyms: Bard1K607A, Bard1KA
Gene: Bard1  Location: Chr1:71066694-71142300 bp, - strand  Genetic Position: Chr1, 35.67 cM
Alliance: Bard1tm2.1Rjbr page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:269011
Parent Cell Line:  KV1 (ES Cell)
Strain of Origin:  (C57BL/6J x 129S6/SvEvTac)F1
Mutation
description
Allele Type:    Targeted (Not Applicable)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA lysine to alanine missense mutation at amino acid 607 (K607A) was inserted into exon 9 and a loxP-flanked PGK-neomycin resistance gene cassette was inserted into intron 8. The selection cassette was removed via cre-mediated recombination. This mutation corresponds to the human K619A mutation that abrogates BARD1 recognition of PAR. (J:269011)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
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 Bard1 Mutation:  55 strains or lines available
References
Original:  J:269011 Billing D, et al., The BRCT Domains of the BRCA1 and BARD1 Tumor Suppressors Differentially Regulate Homology-Directed Repair and Stalled Fork Protection. Mol Cell. 2018 Oct 4;72(1):127-139.e8
All:  2 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
10/29/2024
MGI 6.24
The Jackson Laboratory