Fgfr3^tm3.1Llm
Targeted Allele Detail

Summary

• Symbol: Fgfr3^tm3.1Llm
• Name: fibroblast growth factor receptor 3; targeted mutation 3.1, Laurence Legeai-Mallet
• MGI ID: MGI:7516790
• Synonyms: Fgfr3^Asn534Lys
• Gene: Fgfr3 Location: Chr5:33879068-33894412 bp, + strand Genetic Position: Chr5, 17.83 cM, cytoband B
• Alliance: Fgfr3^tm3.1Llm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:338859
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Constitutively active, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: An asparagine to lysine substitution at amino acid 534 (p.N534K) was introduced in exon 12. A loxP-flanked neomycin/STOP cassette that was inserted upstream of exon 11 was removed via flp-mediated recombination. This corresponds to the p.N540K gain-of-function mutation identified in patients with hypochondroplasia. (J:338859)

Disease models

Expression

In Structures Affected by this Mutation:

17 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: 51 strains or lines available

References

• Original: J:338859 Loisay L, et al., Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice. JCI Insight. 2023 Jun 22;8(12)
• All: 1 reference(s)