Mecp2^tm12.1Bird
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm12.1Bird
• Name: methyl CpG binding protein 2; targeted mutation 12.1, Adrian Bird
• MGI ID: MGI:6199502
• Synonyms: CTD2hu
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm12.1Bird 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, Intragenic deletion, Nucleotide substitutions
• Mutation details: A deletion was created to remove 44 bp from exon 4 (c.1164-1207 Delta44; coordinates refer to human e2 isoform). To match the human sequence as closely as possible, human codons 385 and 386 (PL), which are absent in the endogenous mouse gene, were inserted and single point mutations were engineered to change three codons that differ between mouse and human to the human codons (p.T376P, p.M380V and p.S387P). The mutation that introduces a frameshift and premature stop codon after codon 388 in human patients, was also created. 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. The mRNA levels from this allele are lower than wild-type and protein expression is at around 7%. (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: 38 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)