Med23^tm2Gwan
Targeted Allele Detail

Summary

• Symbol: Med23^tm2Gwan
• Name: mediator complex subunit 23; targeted mutation 2, Gang Wang
• MGI ID: MGI:7482339
• Gene: Med23 Location: Chr10:24745889-24789358 bp, + strand Genetic Position: Chr10, Syntenic
• Alliance: Med23^tm2Gwan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:334076
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP flanked neomycin selection cassette and exon 17 containing an arginine to glutamine substitution at amino acid 617 (c.1850G>A, p.R617Q) replaced exon 17, which corresponds to c.1841G>A, p.R614Q in the mouse on GRCm39. 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)