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| Nomenclature |
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Symbol:
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Fbn1tm3.2Lysa
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Name:
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fibrillin 1;
targeted mutation 3.2, Lynn Y Sakai
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MGI ID: |
MGI:5313375 |
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Synonyms: |
Fbn1WMdelta |
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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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Thick skin in Fbn1tm3.2Lysa/Fbn1+ and Fbn1tm3.2Lysa/Fbn1tm3.2Lysa mice
Show the 2 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:181493
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (other) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Cre-mediated recombination removed the neo cassette and exons 10 and 11. This mutation mimics the one identified in human patients with Weill-Marchesani syndrome (WMS). (J:181493)
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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 Fbn1 Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:181493
Sengle G et al.,
"Microenvironmental regulation by fibrillin-1."
PLoS Genet 2012 Jan;8(1):e1002425
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All: |
1 reference(s)
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Analysis Tools
