Mecp2^tm1.1Jtc
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm1.1Jtc
• Name: methyl CpG binding protein 2; targeted mutation 1.1, Joseph T Coyle
• MGI ID: MGI:5568206
• Synonyms: Mecp2^R168X
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm1.1Jtc page

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 details: The 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)

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: 41 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: 7 reference(s)