Fgfr1^tm2.1Cxd
Targeted Allele Detail

Summary

• Symbol: Fgfr1^tm2.1Cxd
• Name: fibroblast growth factor receptor 1; targeted mutation 2.1, Chu-Xia Deng
• MGI ID: MGI:2153355
• Synonyms: Fgfr1²⁵⁰, Fgfr1^P250R
• Gene: Fgfr1 Location: Chr8:26008808-26067819 bp, + strand Genetic Position: Chr8, 14.12 cM
• Alliance: Fgfr1^tm2.1Cxd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:63959
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Derivative of Fgfr1^tm2Cxd. A point mutation was introduced into exon 7 that altered codon 250 from one encoding proline to one encoding arginine (P250R). This mutation corresponds to a known human mutation in this gene that is a cause of Pfeiffer syndrome. A loxP flanked neomycin cassette in intron 6 was removed via Cre mediated recombination leaving one loxP site. (J:63959)

Disease models

Expression

In Structures Affected by this Mutation:

12 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 Fgfr1 Mutation: 221 strains or lines available

References

• Original: J:63959 Zhou YX, et al., A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. Hum Mol Genet. 2000 Aug 12;9(13):2001-8
• All: 2 reference(s)