Mecp2^tm1.1Gman
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm1.1Gman
• Name: methyl CpG binding protein 2; targeted mutation 1.1, Gail Mandel
• MGI ID: MGI:6196027
• Synonyms: Mecp2^317G-to-A, Mecp2^R106Q
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm1.1Gman page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:252906
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Exon 3 was targeted with a G>A mutation changing codon 106 from arginine to glutamine (p.Arg106Gln or p.R106Q) in the DNA-binding domain of the encoded peptide. An FRT site flanked neomycin resistance gene cassette that was inserted into intron 3 was subsequently removed through flp-mediated recombination. This allele mimics a human mutation associated with Rett syndrome. (J:252906)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Mecp2 Mutation: 46 strains or lines available

References

• Original: J:252906 Sinnamon JR, et al., Site-directed RNA repair of endogenous Mecp2 RNA in neurons. Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9395-E9402
• All: 2 reference(s)