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| Nomenclature |
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Symbol:
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Fbn1tm1Hcd
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Name:
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fibrillin 1;
targeted mutation 1, Harry C Dietz
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MGI ID: |
MGI:3690325 |
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Synonyms: |
Fbn1C1037G, Fbn1C1039G |
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Gene:
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Fbn1
Location:
Chr2:125300594-125507993 bp, - strand
Genetic Position: Chr2,
61.38 cM, cytoband F
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:91349
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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Mutation details: Site-directed mutagenesis was used to create a single G->T base pair alteration in the mouse gene resulting in a Cys->Gly change at amino acid 1037 (previously identified in the literature as C1039G). This corresponds with the human C1039Y mutation. The floxed neo selection cassette was removed by crossing to a ubiquitously expressing Cre mouse line.
(J:91349)
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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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| References |
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Original: |
J:91349
Judge DP et al.,
"Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome."
J Clin Invest 2004 Jul;114(2):172-81
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All: |
15 reference(s)
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Analysis Tools
