Mecp2^em1Jlzn
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mecp2^em1Jlzn
• Name: methyl CpG binding protein 2; endonuclease-mediated mutation 1, Jeffrey Lorenz Neul
• MGI ID: MGI:6472627
• Synonyms: Mecp2^R294X
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^em1Jlzn page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a CGG to TGA change in exon 4 resulting in an arginine to X substitution at amino acid 294 (p.R294X). This mutation is commonly found in humans with Rett Syndrome. Immunoblotting detected a truncation product at 45 kDa. (J:296009)

Disease models

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 Mecp2 Mutation: 41 strains or lines available

References

• Original: J:296009 Merritt JK, et al., Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome. Hum Mol Genet. 2020 Aug 29;29(15):2461-2470
• All: 2 reference(s)