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Allele : Mecp2<tm1.1Irsf> methyl CpG binding protein 2; targeted mutation 1.1, International Rett Syndrome Foundation

Primary Identifier  MGI:4830980 Allele Type  Targeted
Attribute String  Humanized sequence, Null/knockout Gene  Mecp2
Transmission  Germline Strain of Origin  129S2/SvPas
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting construct was designed to insert a loxP-flanked neomycin (neo) resistance cassette downstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A point mutation was introduced in exon 4, corresponding to human amino acid 255, resulting in a non-sense mutation, R255X, commonly found in humans carrying Rett Syndrome (RTT). Cre mediated recombination removed the floxed selection cassette. Western blot analysis indicates absence of full-length protein or the predicted truncation product.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Mecp2*R255X,
  • Mecp2*R255X
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

8 Publication categories