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

Symbol:	Mecp2tm1.1Irsf
Name:	methyl CpG binding protein 2; targeted mutation 1.1, International Rett Syndrome Foundation
MGI ID:	MGI:4830980
Synonyms:	Mecp2*R255X
Gene:	Mecp2  Location: ChrX:73070198-73129296 bp, - strand  Genetic Position: ChrX, 37.63 cM
Alliance:	Mecp2tm1.1Irsf page

Germline Transmission:	Earliest citation of germline transmission: J:185639
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Humanized sequence, Null/knockout) Mutations:    Insertion, Single point mutation   Mutation details: A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette downstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A point mutation was introduced in exon 4, corresponding to human amino acid 255, resulting in a non-sense mutation, R255X, commonly found in humans carrying Rett Syndrome (RTT). Cre mediated recombination removed the floxed selection cassette. Western blot analysis indicates absence of full-length protein or the predicted truncation product. (J:185639, J:220859)

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

In Structures Affected by this Mutation:

4 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:185639 International Rett Syndrome Foundation, A targeted allele of Mecp2. MGI Direct Data Submission. 2012;
All:	4 reference(s)