Sdccag8^em2Lji
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sdccag8^em2Lji
• Name: serologically defined colon cancer antigen 8; endonuclease-mediated mutation 2, Li Jiang
• MGI ID: MGI:7336100
• Synonyms: Sdccag8^E451GfsX467
• Gene: Sdccag8 Location: Chr1:176642226-176848003 bp, + strand Genetic Position: Chr1, 82.66 cM, cytoband H3
• Alliance: Sdccag8^em2Lji page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology generated a 1 bp insertion in exon 11 (c.1351-1352insG) resulting in a frameshift (p.E451GfsX467). This corresponds to the human c.1339-1340insG p.E447GfsX463 mutation known to cause Senior-Loken syndrome. (J:328191)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Sdccag8 Mutation: 36 strains or lines available

References

• Original: J:328191 Ren ZL, et al., Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations. Zool Res. 2022 May 18;43(3):442-456
• All: 1 reference(s)