Med23^em1Gwan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Med23^em1Gwan
• Name: mediator complex subunit 23; endonuclease-mediated mutation 1, Gang Wang
• MGI ID: MGI:7482338
• Synonyms: Med23/R617Q
• Gene: Med23 Location: Chr10:24745889-24789358 bp, + strand Genetic Position: Chr10, Syntenic
• Alliance: Med23^em1Gwan page

Mutation origin

• Strain of Origin: (DBA/2 x C57BL/6)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 1850 resulting in an arginine to glutamine substitution at amino acid 617 (p.R617Q) which corresponds to c.1841G>A, p.R614Q in the mouse on GRCm39. Western blot analysis indicates dramatically decreased levels of protein in E8.5 embryos while qPCR shows unchanged mRNA level. The p.R617Q missense mutation was reported in a familial intellectual disability disorder. (J:334076)

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 Med23 Mutation: 75 strains or lines available

References

• Original: J:334076 Yang Y, et al., An intellectual disability-related MED23 mutation dysregulates gene expression by altering chromatin conformation and enhancer activities. Nucleic Acids Res. 2023 Mar 21;51(5):2137-2150
• All: 1 reference(s)