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Allele : Mecp2<tm1Vnar> methyl CpG binding protein 2; targeted mutation 1, Vinodh Narayanan

Primary Identifier  MGI:4949848 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Mecp2
Transmission  Germline Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+>
Is Recombinase  false Is Wild Type  false
molecularNote  A targeting construct was designed to insert a loxP site followed by a frt-flanked neomycin (neo) resistance cassette upstream of exon 3 of the methyl CpG binding protein 2 (Mecp2) gene. A second loxP site was inserted in the 3' untranslated region of exon 4. A point mutation was introduced in exon 4, resulting in a missense mutation, A140V, commonly found in humans carrying Rett Syndrome (RTT) X-linked mental retardation. Normal transcript stability was confirmed by quantitative qRT-PCR.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • Mecp2*a140v,
  • Mecp2*a140v
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories