Fgfr3^tm1Iwa
Targeted Allele Detail

Summary

• Symbol: Fgfr3^tm1Iwa
• Name: fibroblast growth factor receptor 3; targeted mutation 1, Tomoko Iwata
• MGI ID: MGI:2388058
• Synonyms: Fgf3^K644Mneo
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^tm1Iwa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:70061
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Hypomorph, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: A lysine to methionine substitution at residue 644 (K644M) was introduced into exon 10 of the gene along with a floxed neo cassette in intron 10. The mutation corresponds to K650M in humans (exon 15), which is associated with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). (J:70061)

Tumor Data

List all tumor models in MMHCdb carrying Fgfr3^tm1Iwa

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: 54 strains or lines available

References

• Original: J:70061 Iwata T, et al., Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice. Hum Mol Genet. 2001 Jun 1;10(12):1255-64
• All: 4 reference(s)