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Allele : Mecp2<tm1.1Jtc> methyl CpG binding protein 2; targeted mutation 1.1, Joseph T Coyle

Primary Identifier  MGI:5568206 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Mecp2
Transmission  Germline Strain of Origin  129/SvJ
Is Recombinase  false Is Wild Type  false
molecularNote  The targeting vector was created by using site-directed mutagenesis to introduce an AGA-->TGA (arginine-->stop) substitution into amino acid 168 in exon 4. The nonsense point mutation creates an R168X amino acid substitution in the methyl-CpG binding domain. This mutation corresponds to one of the most common MeCP2 mutations associated with human Rett syndrome. The targeting vector also inserted a loxP-flanked neomycin resistance cassette (neo). Cre-mediated recombination removed the floxed neo cassette. The substitution was confirmed by sequencing.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Mecp2<R168X>,
  • Mecp2<R168X>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

10 Publication categories

Trail: Allele