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Mecp2tm1.1Hupp
Targeted Allele Detail
Nomenclature
Symbol: Mecp2tm1.1Hupp
Name: methyl CpG binding protein 2; targeted mutation 1.1, Peter Huppke
MGI ID: MGI:6392789
Synonyms: Mexp2R168X
Gene: Mecp2  Location: ChrX:73070198-73129296 bp, - strand  Genetic Position: ChrX, 37.63 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:285039
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsA targeting vector containing an FRT flanked neomycin cassette was used to insert an in-frame UGA stop codon in place of the codon (AGA) for arginine (R168X) at position 502 in exon 4. R168X is the most common nonsense mutation associated with Rhett syndrome. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:285039)
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:  33 strains or lines available
References
Original:  J:285039 Brendel C, et al., Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model. J Mol Med (Berl). 2011 Apr;89(4):389-98
All:  1 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
11/23/2021
MGI 6.17
The Jackson Laboratory