Gdf6^em1Jiawa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gdf6^em1Jiawa
• Name: growth differentiation factor 6; endonuclease-mediated mutation 1, Jian Wang
• MGI ID: MGI:7482682
• Synonyms: Gdf6 p.Tyr443Asn, Gdf6^Y443N
• Gene: Gdf6 Location: Chr4:9844372-9862345 bp, + strand Genetic Position: Chr4, 4.35 cM
• Alliance: Gdf6^em1Jiawa page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Tyrosine codon 443 (TAT) was changed to asparagine (AAT) (c.1327T>A p.Y443N) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.Tyr444Asn associated with multiple synostoses syndromes (SYNS). (J:335484)

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 Gdf6 Mutation: 24 strains or lines available

References

• Original: J:335484 Yu T, et al., Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome. J Bone Miner Res. 2023 Apr;38(4):568-577
• All: 1 reference(s)