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Targeted Allele Detail
Symbol: Fbn2tm1Rmz
Name: fibrillin 2; targeted mutation 1, Francesco Ramirez
MGI ID: MGI:2445938
Synonyms: Fbn2-
Gene: Fbn2  Location: Chr18:58008623-58210487 bp, - strand  Genetic Position: Chr18, 32.15 cM, cytoband D-E1
Bilateral syndactyly in Fbn2tm1Rmz/Fbn2tm1Rmz mice

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:70592
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 1 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region contained the 5' untranslated region and sequence encoding the signal peptide and the first 85 residues of the protein. Northern blot analysis of mRNA obtained from newborn lung tissue indicated an absence of transcript in homozygous mutant mice. No protein was detected by Western blot analysis of conditioned media obtained from homozygous mutant fibroblast cultures. (J:70592)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 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 Fbn2 Mutation:  5 strains or lines available
Original:  J:70592 Arteaga-Solis E, et al., Regulation of limb patterning by extracellular microfibrils. J Cell Biol. 2001 Jul 23;154(2):275-81
All:  14 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.15
The Jackson Laboratory