Blm^tm3Ches
Targeted Allele Detail

Summary

• Symbol: Blm^tm3Ches
• Name: Bloom syndrome, RecQ like helicase; targeted mutation 3, Nicholas Chester
• MGI ID: MGI:2683764
• Synonyms: Blm-
• Gene: Blm Location: Chr7:80104839-80184896 bp, - strand Genetic Position: Chr7, 45.65 cM
• Alliance: Blm^tm3Ches page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:86827
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A floxed PGK-neomycin resistance gene was inserted into intron 8 and an additional loxP site was placed in intron 7, 75 bp from the start of exon 8. Both exon 8 and the neomycin gene were subsequently removed from correctly targeted ES cells by Cre-mediated recombination. A frame shift mutation is predicted at the splice site between exon 7 and exon 9 in the resulting transcript. (J:86827)

Expression

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	1 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 Blm Mutation: 88 strains or lines available

References

• Original: J:86827 McDaniel LD, et al., Chromosome instability and tumor predisposition inversely correlate with BLM protein levels. DNA Repair (Amst). 2003 Dec 9;2(12):1387-404
• All: 3 reference(s)