Mecp2^tm6.1Bird
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm6.1Bird
• Name: methyl CpG binding protein 2; targeted mutation 6.1, Adrian Bird
• MGI ID: MGI:5702868
• Synonyms: Mecp2[R133C]^EGFP, R133C-GFP
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm6.1Bird page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:227401
• 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 arginine for cysteine at position 133 (R133C). This mutation affects the methyl-CpG 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 R133C mutation represents 5% of Rhett Syndrome missense mutations. (J:227401)

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:227401 Brown K, et al., The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. Hum Mol Genet. 2016 Feb 1;25(3):558-70
• All: 2 reference(s)