Mecp2^tm8.1Bird
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm8.1Bird
• Name: methyl CpG binding protein 2; targeted mutation 8.1, Adrian Bird
• MGI ID: MGI:6199451
• Synonyms: P225R
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm8.1Bird page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:265095
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A point mutation was created in exon 4 (c.674 C>G; coordinates refer to human e2 isoform) to change codon 225 from proline to arginine (p.P225R or p.Pro225Arg). This mutation is associated with human Rett syndrome. The loxP site flanked neomycin resistance gene and STOP cassette that was inserted into intron 2 was removed through subsequent cre-mediated recombination. (J:265095)

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:265095 Guy J, et al., A mutation-led search for novel functional domains in MeCP2. Hum Mol Genet. 2018 Jul 15;27(14):2531-2545
• All: 1 reference(s)