Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol: Fbn2tm1Rmz Name: fibrillin 2; targeted mutation 1, Francesco Ramirez MGI ID: MGI:2445938 Synonyms: Fbn2- Gene: Fbn2  Location: Chr18:58141689-58343200 bp, - strand  Genetic Position: Chr18, 32.15 cM, cytoband D-E1 Alliance: Fbn2tm1Rmz page

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 details: Exon 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).

In Structures Affected by this Mutation:

5 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Fbn2 Mutation:	142 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:	15 reference(s)