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Allele : Mecp2<tm8.1Bird> methyl CpG binding protein 2; targeted mutation 8.1, Adrian Bird

Primary Identifier  MGI:6199451 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Mecp2
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  A point mutation was created in exon 4 (c.674 C>G; coordinates refer to human e2 isoform) to change codon 225 from proline to arginine (p.P225R or p.Pro225Arg). This mutation is associated with human Rett syndrome. The loxP site flanked neomycin resistance gene and STOP cassette that was inserted into intron 2 was removed through subsequent cre-mediated recombination.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • P225R,
  • P225R
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele