Fgf9^tm1Zgwg
Targeted Allele Detail

Summary

• Symbol: Fgf9^tm1Zgwg
• Name: fibroblast growth factor 9; targeted mutation 1, Zhugang Wang
• MGI ID: MGI:5910441
• Synonyms: Fgf9^mt, Fgf9^S99N
• Gene: Fgf9 Location: Chr14:58308543-58350311 bp, + strand Genetic Position: Chr14, 30.51 cM, cytoband D
• Alliance: Fgf9^tm1Zgwg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:241783
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 2 was targeted with a G>A point mutation and a neomycin resistance gene cassette was inserted into intron 2. The mutation changes codon 99 from serine to asparagine (p.Ser99Asp). This mimics a mutation found in human multiple synostoses syndrome (SYNS) patients. RT-qPCR confirmed that this allele was expressed at the same level as wild-type. (J:241783)

Disease models

Expression

In Structures Affected by this Mutation:

9 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 Fgf9 Mutation: 17 strains or lines available

References

• Original: J:241783 Tang L, et al., A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. Hum Mol Genet. 2017 Apr 01;26(7):1280-1293
• All: 2 reference(s)