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| Nomenclature |
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Symbol:
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Blmtm1Grdn
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Name:
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Bloom syndrome, RecQ helicase-like;
targeted mutation 1, Joanna Groden
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MGI ID: |
MGI:2388038 |
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Synonyms: |
BlmCin |
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Gene:
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Blm
Location:
Chr7:80454993-80535119 bp, - strand
Genetic Position: Chr7,
45.65 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:79058
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Parent Cell Line:
| E14TG2a (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exons 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Blm Mutation:
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30 strains or lines available |
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| References |
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Original: |
J:79058
Goss KH et al.,
"Enhanced tumor formation in mice heterozygous for Blm mutation."
Science 2002 Sep 20;297(5589):2051-3
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All: |
3 reference(s)
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Analysis Tools
