Ogt^em1Dvaa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ogt^em1Dvaa
• Name: O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase); endonuclease-mediated mutation 1, Daan MF van Aalten
• MGI ID: MGI:7714705
• Synonyms: Ogt^C921Y, OGT^CDG
• Gene: Ogt Location: ChrX:100683666-100727957 bp, + strand Genetic Position: ChrX, 44.45 cM, cytoband D
• Alliance: Ogt^em1Dvaa page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change resulting in a cysteine to tyrosine substitution at amino acid 921 (p.C921Y) in the catalytic domain. This mutation results in loss of OGT catalytic activity. (J:353384)

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 Ogt Mutation: 11 strains or lines available

References

• Original: J:353384 Authier F, et al., Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability. Dis Model Mech. 2024 Apr 1;17(4)
• All: 1 reference(s)