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Mecp2tm1.1Jtc
Targeted Allele Detail
Nomenclature
Symbol: Mecp2tm1.1Jtc
Name: methyl CpG binding protein 2; targeted mutation 1.1, Joseph T Coyle
MGI ID: MGI:5568206
Synonyms: Mecp2R168X
Gene: Mecp2  Location: ChrX:74026592-74085690 bp, - strand  Genetic Position: ChrX, 37.63 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:127431
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129/SvJ
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsThe targeting vector was created by using site-directed mutagenesis to introduce an AGA-->TGA (arginine-->stop) substitution into amino acid 168 in exon 4. The nonsense point mutation creates an R168X amino acid substitution in the methyl-CpG binding domain. This mutation corresponds to one of the most common MeCP2 mutations associated with human Rett syndrome. The targeting vector also inserted a loxP-flanked neomycin resistance cassette (neo). Cre-mediated recombination removed the floxed neo cassette. The substitution was confirmed by sequencing. (J:127431)
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: 2 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:  22 strains or lines available
References
Original:  J:127431 Lawson-Yuen A, et al., Ube3a mRNA and protein expression are not decreased in Mecp2(R168X) mutant mice. Brain Res. 2007 Nov 14;1180:1-6
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory