Mecp2^tm1.1Dhy
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm1.1Dhy
• Name: methyl CpG binding protein 2; targeted mutation 1.1, Dag H Yasui
• MGI ID: MGI:5584016
• Synonyms: Mecp2-e1^-
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm1.1Dhy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:209069
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 1 was replaced with a modified exon 1 in which a nucleotide substitution of A to T results in the destruction of the translation initiation site. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette inserted downstream of the modified exon 1. Western blot analysis confirmed the absence of e1 isoform expression and preserved e2 isoform expression in the brain. (J:209069)

Disease models

Expression

In Structures Affected by this Mutation:

1 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:209069 Yasui DH, et al., Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome. Hum Mol Genet. 2014 May 1;23(9):2447-58
• All: 3 reference(s)