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

Symbol:	Mecp2tm1.1Jtc
Name:	methyl CpG binding protein 2; targeted mutation 1.1, Joseph T Coyle
MGI ID:	MGI:5568206
Synonyms:	Mecp2R168X
Gene:	Mecp2  Location: ChrX:73070198-73129296 bp, - strand  Genetic Position: ChrX, 37.63 cM
Alliance:	Mecp2tm1.1Jtc page

Germline Transmission:	Earliest citation of germline transmission: J:127431
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129/SvJ

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Single point mutation   Mutation details: The targeting vector was created by using site-directed mutagenesis to introduce an AGA-->TGA (arginine-->stop) substitution into amino acid 168 in exon 4. The nonsense point mutation creates an R168X amino acid substitution in the methyl-CpG binding domain. This mutation corresponds to one of the most common MeCP2 mutations associated with human Rett syndrome. The targeting vector also inserted a loxP-flanked neomycin resistance cassette (neo). Cre-mediated recombination removed the floxed neo cassette. The substitution was confirmed by sequencing. (J:127431)

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

In Structures Affected by this Mutation:

3 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:127431 Lawson-Yuen A, et al., Ube3a mRNA and protein expression are not decreased in Mecp2(R168X) mutant mice. Brain Res. 2007 Nov 14;1180:1-6
All:	7 reference(s)