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Fbn1tm3.2Lysa
Targeted Allele Detail
Nomenclature
Symbol: Fbn1tm3.2Lysa
Name: fibrillin 1; targeted mutation 3.2, Lynn Y Sakai
MGI ID: MGI:5313375
Synonyms: Fbn1WMdelta
Gene: Fbn1  Location: Chr2:125300594-125507993 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Thick skin in Fbn1tm3.2Lysa/Fbn1+ and Fbn1tm3.2Lysa/Fbn1tm3.2Lysa mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:181493
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence, Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsCre-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)
Generation of the Fbn1tm3.1Lysa and Fbn1tm3.2Lysa alleles
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Fbn1 Mutation:  6 strains or lines available
References
Original:  J:181493 Sengle G, et al., Microenvironmental regulation by fibrillin-1. PLoS Genet. 2012 Jan;8(1):e1002425
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/16/2018
MGI 6.12
The Jackson Laboratory