Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Brca1tm1.2(BRCA1*)Tsr
Name:	breast cancer 1, early onset; targeted mutation 1.2,Theodora S Ross
MGI ID:	MGI:5882956
Synonyms:	Brca15382insC
Gene:	Brca1  Location: Chr11:101379590-101442781 bp, - strand  Genetic Position: Chr11, 65.18 cM, cytoband D
Alliance:	Brca1tm1.2(BRCA1*)Tsr page

Germline Transmission:	Earliest citation of germline transmission: J:240315
Parent Cell Line:	ART B6 3.6 (ES Cell)
Strain of Origin:	C57BL/6NTac

Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence, Null/knockout) Mutations:    Insertion, Intergenic deletion   Brca1tm1.2(BRCA1*)Tsr expresses 1 gene Knock-in expresses: Organism Expressed Gene Homolog in Mouse Note human BRCA1 (672) Brca1  (MGI:104537) insertion of cytosine at position 5382   Mutation details: A targeting vector containing (5' to 3'): human BRCA1 exons 2 to 14 - loxP site - F3 mutant FRT site - Puromycin cassette - F3 mutant FRT site - human BRCA1 exons 15 to 23 - mouse Brca1 3' UTR - HGHpA - loxP site - human mutant BRCA1 exons 15 to 23 (including the 5382insC point mutation in exon 19) - mouse Brca1 3' UTR - HGHpA - FRT - NEO cassette - FRT, was used to replace the coding region in exon 2 and the splice donor-site in intron 2 of the mouse Brca1 gene.The 5382insC point mutation inserts a cytosine at position 5382 resulting in a premature translation initiation codon in exon 23. Transient flp-mediated recombination removed both the puro and neo cassettes. Cre-mediated recombination removes human wild-type BRCA1 exons 15-23 and allows transcription of the 5382insC mutation. (J:240315)

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 Brca1 Mutation:	113 strains or lines available

Original:	J:240315 Mgbemena VE, et al., Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function. Cell Rep. 2017 Jan 24;18(4):947-960
All:	1 reference(s)