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

Symbol:	Mecp2tm1.1Dhy
Name:	methyl CpG binding protein 2; targeted mutation 1.1, Dag H Yasui
MGI ID:	MGI:5584016
Synonyms:	Mecp2-e1-
Gene:	Mecp2  Location: ChrX:73070198-73129296 bp, - strand  Genetic Position: ChrX, 37.63 cM
Alliance:	Mecp2tm1.1Dhy page

Germline Transmission:	Earliest citation of germline transmission: J:209069
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	C57BL/6N

Allele Type:    Targeted (Hypomorph) Mutations:    Insertion, Single point mutation   Mutation details: Exon 1 was replaced with a modified exon 1 in which a nucleotide substitution of A to T results in the destruction of the translation initiation site. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette inserted downstream of the modified exon 1. Western blot analysis confirmed the absence of e1 isoform expression and preserved e2 isoform expression in the brain. (J:209069)

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:209069 Yasui DH, et al., Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Hum Mol Genet. 2014 May 1;23(9):2447-58
All:	3 reference(s)