Blmtm1Grdn
Targeted Allele Detail
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| Symbol: |
Blmtm1Grdn |
| Name: |
Bloom syndrome, RecQ like helicase; targeted mutation 1, Joanna Groden |
| MGI ID: |
MGI:2388038 |
| Synonyms: |
BlmCin |
| Gene: |
Blm Location: Chr7:80104741-80184896 bp, - strand Genetic Position: Chr7, 45.65 cM
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| Alliance: |
Blmtm1Grdn page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:79058
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| Parent Cell Line: |
E14TG2a (ES Cell)
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| Strain of Origin: |
129P2/OlaHsd
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| Allele Type: |
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Targeted (Null/knockout) |
| Mutations: |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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List all tumor models in MMHCdb carrying
Blmtm1Grdn
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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
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| Carrying any Blm Mutation: |
87 strains or lines available
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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 |
| All: |
4 reference(s) |
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Analysis Tools
