Fbn2^tm1Rmz
Targeted Allele Detail

Summary

• Symbol: Fbn2^tm1Rmz
• 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: Fbn2^tm1Rmz page

Bilateral syndactyly in Fbn2^tm1Rmz/Fbn2^tm1Rmz mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70592
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• 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: 143 strains or lines available

References

• 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)