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Targeted Allele Detail
Symbol: Mecp2tm5.1Bird
Name: methyl CpG binding protein 2; targeted mutation 5.1, Adrian Bird
MGI ID: MGI:5529365
Synonyms: Mecp2R306C, R306C-GFP
Gene: Mecp2  Location: ChrX:73070198-73129296 bp, - strand  Genetic Position: ChrX, 37.63 cM
Germline Transmission:  Earliest citation of germline transmission: J:203745
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Humanized sequence, Null/knockout, Reporter)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsNucleotide substitution(s) in exon 4 resulted in the amino acid substitution of cysteine for arginine at position 306 (R306C). This mutation abolishes the interaction with NCoR/SMRT components. 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 R306C mutation represents 9% of Rhett Syndrome missense mutations. (J:203745)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 anatomical structures
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:  33 strains or lines available
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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory