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Allele : Mecp2<tm6.1Bird> methyl CpG binding protein 2; targeted mutation 6.1, Adrian Bird

Primary Identifier  MGI:5702868 Allele Type  Targeted
Attribute String  Humanized sequence, Null/knockout, Reporter Gene  Mecp2
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  Nucleotide substitution(s) in exon 4 resulted in the amino acid substitution of arginine for cysteine at position 133 (R133C). This mutation affects the methyl-CpG binding domain. An EGFP was fused in-frame downstream of the coding sequence in exon 4. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of EGFP. The R133C mutation represents 5% of Rhett Syndrome missense mutations.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Mecp2[R133C]<EGFP>,
  • R133C-GFP,
  • Mecp2[R133C]<EGFP>,
  • R133C-GFP
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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

5 Publication categories

Trail: Allele