Fam83h^em1Cya
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fam83h^em1Cya
• Name: family with sequence similarity 83, member H; endonuclease-mediated mutation 1, Cyagen Biosciences
• MGI ID: MGI:7382742
• Synonyms: FAM83H^1-395
• Gene: Fam83h Location: Chr15:75872942-75886185 bp, - strand Genetic Position: Chr15, 35.22 cM
• Alliance: Fam83h^em1Cya page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Epitope tag, Null/knockout)
• Mutation: Insertion
• Mutation details: Using CRISPRA/Cas9 technology, a flag-tagged stop codon (TGA) was introduced to the Fam83h gene to replace the glutamine codon (CAG) at position 1186-1188. The truncated FAM83H1-395, corresponds to the human ADHCAI FAM83H variant c.1192C > T (p.Q398*). (J:330612)

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 Fam83h Mutation: 52 strains or lines available

References

• Original: J:330612 Zheng X, et al., Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice. Bone. 2022 Oct 20;166:116595
• All: 2 reference(s)