Fgfr3^tm1Llm
Targeted Allele Detail

Summary

• Symbol: Fgfr3^tm1Llm
• Name: fibroblast growth factor receptor 3; targeted mutation 1, Laurence Legeai-Mallet
• MGI ID: MGI:3840003
• Synonyms: Fgfr3^Y367C
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^tm1Llm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:147208
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 9 was replaced with one in which nucleotide substitutions result in the amino acid substitution of cysteine for tyrosine at position 367 (Y367C). This mutation was corresponds to the Y373C mutation in human patients with thanatophoric dysplasia type I and causes ligand independent activation of the receptor. A floxed neo was inserted downstream of exon 9 and removed by germ line, cre mediated recombination. (J:147208)

Disease models

Expression

In Mice Carrying this Mutation:	5 assay results
In Structures Affected by this Mutation:	26 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:147208 Pannier S, et al., Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. Biochim Biophys Acta. 2009 Feb;1792(2):140-7
• All: 11 reference(s)