Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Mecp2tm2.1Meg
Name:	methyl CpG binding protein 2; targeted mutation 2.1, Michael E Greenberg
MGI ID:	MGI:5529372
Synonyms:	Mecp2R306C
Gene:	Mecp2  Location: ChrX:73070198-73129296 bp, - strand  Genetic Position: ChrX, 37.63 cM
Alliance:	Mecp2tm2.1Meg page

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

Allele Type:    Targeted Mutations:    Insertion, Nucleotide substitutions   Mutation details: Nucleotide 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. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of exon 4. (J:203745)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	38 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:	7 reference(s)