Mecp2^tm4.1Bird
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm4.1Bird
• Name: methyl CpG binding protein 2; targeted mutation 4.1, Adrian Bird
• MGI ID: MGI:5529361
• Synonyms: Mecp2^T158M, T158M-GFP
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm4.1Bird page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:203745
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout, Reporter)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide substitution(s) in exon 4 resulted in the amino acid substitution of methionine for threonine at position 158 (T158M). This mutation affects the DNA binding domain. An EGFP was fused in-frame downstream of the coding sequence in exon 4. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of EGFP. The T158M mutation represents 12% of Rhett Syndrome missense mutations. (J:203745)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Mecp2 Mutation: 41 strains or lines available

References

• Original: J:203745 Lyst MJ, et al., Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nat Neurosci. 2013 Jul;16(7):898-902
• All: 4 reference(s)