Brca2<i><sup>m1Uwm</sup></i> (BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison) - Rat Genome Database

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Gene: Brca2m1Uwm (BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison) Rattus norvegicus
Analyze
Symbol: Brca2m1Uwm
Name: BRCA2, DNA repair associated; mutation 1, University of Wisconsin-Madison
RGD ID: 728326
Description: produced by N-ethyl-N-nitrosourea (ENU)-induced germline mutations in Sprague Dawley (SD) rats; nonsense transversion mutation at nucleotide T4254 that converted TAT (tyrosine) to TAA (stop codon)
ASSOCIATED WITH abnormal mammary gland development; abnormal spermatogenesis; decreased body weight; ASSOCIATED WITH atrophy of testis; cancer; cataract
Type: allele  of Brca2  
Previously known as: Brca2m1Uwm; Brca2^[m1Uwm]; Brca2m1Uwm
Is Marker For: Strains:   SD-Brca2m1Uwm  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
RGSC_v3.1124,282,951 - 4,323,693 (-)NCBI


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Characterizing a rat Brca2 knockout model. Cotroneo MS, etal., Oncogene. 2006 Sep 11;.
2. Production of knockout rats using ENU mutagenesis and a yeast-based screening assay. Zan Y, etal., Nat Biotechnol 2003 Jun;21(6):645-51.

Genomics

Allelic Variants
Name Chromosome Start Pos End Pos Reference Nucleotide Variant Nucleotide Variant Type Assembly
Brca2m1Uwm-var1 chr12 74070 74070 T A point_mutation mRatBN7.2
Brca2m1Uwm-var1 chr12 518257 518257 T A point_mutation Rnor_6.0

Related Rat Strains
The following Strains have been annotated to Brca2m1Uwm
SD-Brca2m1Uwm    


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_031542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Additional Information


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2007-04-12 Brca2m1Uwm,/i>    Brca2m1Uwm  breast cancer 2, mutation 1, University of Wisconsin-Madison  Symbol updated 737654 APPROVED
2004-12-14 Brca2m1Uwm  breast cancer 2, mutation 1, University of Wisconsin-Madison      Symbol and Name status set to approved 1299863 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_mutations_overexpression homozygous rats exhibit severe atrophy; the testis displays severe atrophy with seminiferous tubules that do not contain spermatids; the ovaries are extremely atrophic and do not contain any developing germ cells 727990