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Mecp2tm6.1Bird
Targeted Allele Detail
Nomenclature
Symbol: Mecp2tm6.1Bird
Name: methyl CpG binding protein 2; targeted mutation 6.1, Adrian Bird
MGI ID: MGI:5702868
Synonyms: Mecp2[R133C]EGFP, R133C-GFP
Gene: Mecp2  Location: ChrX:74026592-74085690 bp, - strand  Genetic Position: ChrX, 37.63 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:227401
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Humanized sequence, Null/knockout, Reporter)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsNucleotide substitution(s) in exon 4 resulted in the amino acid substitution of arginine for cysteine at position 133 (R133C). This mutation affects the methyl-CpG binding domain. An EGFP was fused in-frame downstream of the coding sequence in exon 4. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of EGFP. The R133C mutation represents 5% of Rhett Syndrome missense mutations. (J:227401)
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: 1 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:227401 Brown K, et al., The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome. Hum Mol Genet. 2015 Dec 8;
All:  1 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