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Fgf13em1Xuzh
Endonuclease-mediated Allele Detail
Summary
Symbol: Fgf13em1Xuzh
Name: fibroblast growth factor 13; endonuclease-mediated mutation 1, Xu Zhang
MGI ID: MGI:6728807
Gene: Fgf13  Location: ChrX:58107505-58613431 bp, - strand  Genetic Position: ChrX, 33.31 cM
Alliance: Fgf13em1Xuzh page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Modified isoform(s))
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology generated a C to G change in the 5'-UTR of the gene. This mutation is homologous to a single-nucleotide polymorphism identified in Chinese Han children with severe intellectual disability. Transcripts of isoforms 2 and 4 are not changed but protein levels of isoforms 2 and 4 in both cerebral cortex and hippocampus are decreased. (J:307501)
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: 1 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 Fgf13 Mutation:  11 strains or lines available
References
Original:  J:307501 Pan X, et al., 5'-UTR SNP of FGF13 causes translational defect and intellectual disability. Elife. 2021 Jun 29;10:e63021
All:  1 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
06/12/2024
MGI 6.13
The Jackson Laboratory