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Braftm1Tumg
Targeted Allele Detail
Summary
Symbol: Braftm1Tumg
Name: Braf transforming gene; targeted mutation 1, Yoko Aoki
MGI ID: MGI:5902220
Synonyms: BrafQ241R Neo
Gene: Braf  Location: Chr6:39580171-39702397 bp, - strand  Genetic Position: Chr6, 18.43 cM
Alliance: Braftm1Tumg page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:216228
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Mutation
description
Allele Type:    Targeted (Conditional ready)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA PGK-Neo-STOP cassette flanked by loxP sites was inserted in intron 6 and a glutamine to arginine substitution at amino acid 241 (Q241R) was inserted into exon 7 via homologous recombination. The mutant transcript is expressed only after cre-mediated recombination. (J:216228)
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: 21 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 Braf Mutation:  60 strains or lines available
References
Original:  J:216228 Inoue S, et al., New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. Hum Mol Genet. 2014 Dec 15;23(24):6553-66
All:  5 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