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Allele : Mecp2<tm5.1Bird> methyl CpG binding protein 2; targeted mutation 5.1, Adrian Bird

Primary Identifier  MGI:5529365 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 cysteine for arginine at position 306 (R306C). This mutation abolishes the interaction with NCoR/SMRT components. 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 R306C mutation represents 9% of Rhett Syndrome missense mutations.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Mecp2<R306C>,
  • R306C-GFP,
  • Mecp2<R306C>,
  • R306C-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

7 Publication categories

Trail: Allele