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Targeted Allele Detail
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:74026592-74085690 bp, - strand  Genetic Position: ChrX, 37.63 cM
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 detailsA 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).
Disease models
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:  29 strains or lines available
Original:  J:185639 International Rett Syndrome Foundation, A targeted allele of Mecp2. MGI Direct Data Submission. 2012;
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory