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Targeted Allele Detail
Symbol: Blmtm1Grdn
Name: Bloom syndrome, RecQ like helicase; targeted mutation 1, Joanna Groden
MGI ID: MGI:2388038
Synonyms: BlmCin
Gene: Blm  Location: Chr7:80454733-80535119 bp, - strand  Genetic Position: Chr7, 45.65 cM
Germline Transmission:  Earliest citation of germline transmission: J:79058
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExons 10, 11, and 12 were replaced by an hprt cassette inserted by homologous recombination. The deletion was designed to recapitulate the BLMAsh 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)
View phenotypes and curated references for all genotypes (concatenated display).
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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:  71 strains or lines available
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:  3 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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