Mecp2^tm1.1Hupp
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm1.1Hupp
• Name: methyl CpG binding protein 2; targeted mutation 1.1, Peter Huppke
• MGI ID: MGI:6392789
• Synonyms: Mexp2^R168X
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm1.1Hupp page

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 details: A 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: 38 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)