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Fgf9tm1Zgwg
Targeted Allele Detail
Summary
Symbol: Fgf9tm1Zgwg
Name: fibroblast growth factor 9; targeted mutation 1, Zhugang Wang
MGI ID: MGI:5910441
Synonyms: Fgf9mt, Fgf9S99N
Gene: Fgf9  Location: Chr14:58308543-58350311 bp, + strand  Genetic Position: Chr14, 30.51 cM, cytoband D
Alliance: Fgf9tm1Zgwg 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 detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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:  15 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/17/2024
MGI 6.24
The Jackson Laboratory