Fgf13^em1Xuzh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fgf13^em1Xuzh
• 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: Fgf13^em1Xuzh page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: CRISPR/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)

Disease models

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: 10 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)