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| Nomenclature |
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Symbol:
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Fancatm1Wong
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Name:
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Fanconi anemia, complementation group A;
targeted mutation 1, Jasmine C Y Wong
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MGI ID: |
MGI:2674094 |
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Synonyms: |
Fancatm1Hsc |
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Gene:
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Fanca
Location:
Chr8:123268300-123318576 bp, - strand
Genetic Position: Chr8,
72.1 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:85108
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Parent Cell Line:
| TL1/TL-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A portion of exon 1 and all of exons 2 through 6 were replaced with a cassette containing IRES-NLS-lacZ and floxed neo. While transcript containing the targeted exons was undetected, RT-PCR analysis of homozygous mutant mice revealed transcript that included exons 14 through 18. A C-terminal antibody was not available to determine if protein was produced from the detected message. (J:85108)
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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 Fanca Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:85108
Wong JC et al.,
"Targeted disruption of exons 1 to 6 of the Fanconi Anemia group A gene leads to growth retardation, strain-specific microphthalmia, meiotic defects and primordial germ cell hypoplasia."
Hum Mol Genet 2003 Aug 15;12(16):2063-76
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All: |
2 reference(s)
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