Mecp2^tm1.1Joez
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm1.1Joez
• Name: methyl CpG binding protein 2; targeted mutation 1.1, Zhaolan Zhou
• MGI ID: MGI:5310727
• Synonyms: Mecp2^T158A, MeCP2 T158A
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm1.1Joez page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:181311
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette upstream of exon 4. A point mutation was introduced in exon 4, resulting in the amino acid mutation, T158A, found in humans carrying the neurodevelopmental disorder Rett Syndrome (RTT). An additional point mutation was introduced at codon 160 to produce a silent mutation that allowed for identification of targeted ES cells. Cre-mediated recombination removed the neo cassette. (J:181311)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:181311 Goffin D, et al., Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat Neurosci. 2012 Feb;15(2):274-83
• All: 6 reference(s)