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Mecp2tm1.1Irsf
Targeted Allele Detail
Nomenclature
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:185639
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
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
References
Original:  J:185639 International Rett Syndrome Foundation, A targeted allele of Mecp2. MGI Direct Data Submission. 2012;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/15/2018
MGI 6.12
The Jackson Laboratory