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Sdccag8em2Lji
Endonuclease-mediated Allele Detail
Summary
Symbol: Sdccag8em2Lji
Name: serologically defined colon cancer antigen 8; endonuclease-mediated mutation 2, Li Jiang
MGI ID: MGI:7336100
Synonyms: Sdccag8E451GfsX467
Gene: Sdccag8  Location: Chr1:176642226-176848003 bp, + strand  Genetic Position: Chr1, 82.66 cM, cytoband H3
Alliance: Sdccag8em2Lji page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence, Hypomorph)
Mutation:    Insertion
 
Mutation detailsCRISPR/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)
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: 7 anatomical structures
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:  24 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)

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
11/28/2023
MGI 6.22
The Jackson Laboratory