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Fbn1tm1Lper
Targeted Allele Detail
Nomenclature
Symbol: Fbn1tm1Lper
Name: fibrillin 1; targeted mutation 1, Lygia V Pereira
MGI ID: MGI:4880665
Synonyms: Fbn1mgdeltaloxPneo
Gene: Fbn1  Location: Chr2:125300594-125507993 bp, - strand  Genetic Position: Chr2, 61.38 cM, cytoband F
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:167276
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Dominant negative)
Mutations:    Insertion, Intragenic deletion
    Exons 19 through 24 were replaced with a floxed neo cassette. (J:167276)
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: 7 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:  103 strains or lines available
Notes
ES cell line = USP-1
References
Original:  J:167276 Lima BL, et al., A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression. PLoS One. 2010;5(11):e14136
All:  3 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
09/11/2018
MGI 6.12
The Jackson Laboratory