Blm^tm1Grdn
Targeted Allele Detail

Summary

• Symbol: Blm^tm1Grdn
• Name: Bloom syndrome, RecQ like helicase; targeted mutation 1, Joanna Groden
• MGI ID: MGI:2388038
• Synonyms: Blm^Cin
• Gene: Blm Location: Chr7:80104839-80184896 bp, - strand Genetic Position: Chr7, 45.65 cM
• Alliance: Blm^tm1Grdn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:79058
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 10, 11, and 12 were replaced by an hprt cassette inserted by homologous recombination. The deletion was designed to recapitulate the BLM^Ash allele, which is carried by approximately 1% of Ashkenazi Jews and contains a frameshift mutation in exon 10 that results in the premature truncation of the encoded protein. Western blot analysis of lysates from heterozygous testes tissue showed reduced levels of normal protein and an absence of truncated protein. No protein was detected in lysates from homozygous mutant embryos. (J:79058)

Disease models

Tumor Data

List all tumor models in MMHCdb carrying Blm^tm1Grdn

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:79058 Goss KH, et al., Enhanced tumor formation in mice heterozygous for Blm mutation. Science. 2002 Sep 20;297(5589):2051-3
• All: 4 reference(s)