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| Nomenclature |
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Symbol:
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Cftrtm1Bay
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Name:
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cystic fibrosis transmembrane conductance regulator;
targeted mutation 1, Baylor College of Medicine
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MGI ID: |
MGI:1857897 |
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Synonyms: |
cftrm1Bay |
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Gene:
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Cftr
Location:
Chr6:18170687-18322768 bp, + strand
Genetic Position: Chr6,
8.1 cM, cytoband A3
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:15244
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt+
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Mutation description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Duplication |
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Mutation details: An insertion vector that contained exon 3 and a neomycin selection cassette was inserted into intron 2 of the gene. The duplication of exon 3 caused a frameshift change. (J:15244)
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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 Cftr Mutation:
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13 strains or lines available |
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| References |
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Original: |
J:15244
O'Neal WK et al.,
"A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus."
Hum Mol Genet 1993 Oct;2(10):1561-9
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All: |
2 reference(s)
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