Mecp2^tm11.1Bird
Targeted Allele Detail

Summary

• Symbol: Mecp2^tm11.1Bird
• Name: methyl CpG binding protein 2; targeted mutation 11.1, Adrian Bird
• MGI ID: MGI:6199493
• Synonyms: CTD2
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^tm11.1Bird 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
• 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 more closely, human codons 385 and 386 (PL), which are absent in the endogenous mouse gene, were inserted. 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 and protein expression from this allele are equivalent to wild-type. (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)