Mecp2^tm1.1Irsf
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm1.1Irsf
• Name: methyl CpG binding protein 2; targeted mutation 1.1, International Rett Syndrome Foundation
• MGI ID: MGI:4830980
• Synonyms: Mecp2*R255X
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm1.1Irsf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:185639
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutations: Insertion, Single point mutation
• Mutation details: A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette downstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A point mutation was introduced in exon 4, corresponding to human amino acid 255, resulting in a non-sense mutation, R255X, commonly found in humans carrying Rett Syndrome (RTT). Cre mediated recombination removed the floxed selection cassette. Western blot analysis indicates absence of full-length protein or the predicted truncation product. (J:185639, J:220859)

Disease models

Expression

In Structures Affected by this Mutation:

4 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: 41 strains or lines available

References

• Original: J:185639 International Rett Syndrome Foundation, A targeted allele of Mecp2. MGI Direct Data Submission. 2012
• All: 4 reference(s)