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| Nomenclature |
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Symbol:
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Cftrtm2Cam
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Name:
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cystic fibrosis transmembrane conductance regulator;
targeted mutation 2, University of Cambridge
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MGI ID: |
MGI:1857896 |
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Synonyms: |
deltaF508- |
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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:27734
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Parent Cell Line:
| TG4 (ES Cell) |
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Strain of Origin:
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129S/SvEv-Gpi1c
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A three base pair deletion between nucleotides 1522 and 1524 is predicted to cause the deletion of phenylalanine 508 from the encoded protein. An HPRT minigene was also inserted in reverse transcriptional orientation relative to the gene. (J:27734)
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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:27734
Colledge WH et al.,
"Generation and characterization of a delta F508 cystic fibrosis mouse model."
Nat Genet 1995 Aug;10(4):445-52
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All: |
6 reference(s)
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Analysis Tools
