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St6galnac1em1Len
Endonuclease-mediated Allele Detail
Summary
Symbol: St6galnac1em1Len
Name: ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1; endonuclease-mediated mutation 1, Michael J Lenardo
MGI ID: MGI:7488215
Synonyms: St6galnac1R319Q
Gene: St6galnac1  Location: Chr11:116655851-116666333 bp, - strand  Genetic Position: Chr11, 81.49 cM, cytoband E2
Alliance: St6galnac1em1Len page
Mutation
origin
Strain of Origin:  Not Applicable
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsArginine codon 319 (CGA) was changed to glutamine (CAA) (p.R319Q) using an sgRNA (targeting CCGGTATGTTCTCCCTCCGTTGC) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of a human mutation associated with inflammatory bowel disease (IBD). (J:324883)
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: 4 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 St6galnac1 Mutation:  31 strains or lines available
References
Original:  J:324883 Yao Y, et al., Mucus sialylation determines intestinal host-commensal homeostasis. Cell. 2022 Mar 31;185(7):1172-1188.e28
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
11/19/2024
MGI 6.24
The Jackson Laboratory