Fgfr3^tm1Wei
Targeted Allele Detail

Summary

• Symbol: Fgfr3^tm1Wei
• Name: fibroblast growth factor receptor 3; targeted mutation 1, Weizmann Institute of Science
• MGI ID: MGI:2135635
• Synonyms: FGFR^G374Rneo+
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^tm1Wei page

Phenotypic and histological analysis of the Fgfr3^tm1Wei/Fgfr3^tm1Wei mouse

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:54829
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Single point mutation
• Mutation details: Introduction of a G to A point mutation in codon 374 (orthologous to human codon 380) that altered the corresponding amino acid from a glycine to an arginine. A loxP flanked neomycin cassette was also inserted into intron 4. Northern blot analysis revealed that a novel high molecular weight mRNA was made in homozygous mutants that hybridized with both Fgfr3 and Neo probes, suggesting that the neomycin cassette may have interfered with proper splicing of the transcript. (J:54829)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Fgfr3 Mutation: 52 strains or lines available

References

• Original: J:54829 Wang Y, et al., A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. Proc Natl Acad Sci U S A. 1999 Apr 13;96(8):4455-60
• All: 1 reference(s)