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Allele : Mecp2<em1Gfng> methyl CpG binding protein 2; endonuclease-mediated mutation 1, Guoping Feng

Primary Identifier  MGI:6886058 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Mecp2
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/cas9 genome editing used two guides sgRNA-49229 (5'-gattgcatactttgaaaagg-3') and sgRNA-49791 (5'-ccacccttggtgagaaaagc-3') to target the start and end of the humanization region (exon 4) as well as a single strand DNA (ssDNA) donor template that spans the two cut sides. The homology arm length for the ssDNA donor is 300 nt. The insertion includes a 561 bp humanized MECP2 region, and a Rett Syndrome-associated MECP2 R270X mutation (arginine to stop, c.808 C to T, p.Arg 270*) in exon 4. The 561bp humanized MeCP2 region corresponds to amino acid (aa) positions 145-331 aa in the human MeCP2 locus (Note: brain enriched isoform MeCP2-E1 is 498 aa in length).
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Mecp2 huExon4*R270X,
  • Mecp2 huExon4*R270X
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1 Feature

Trail: Allele

Genome

1 Expresses

Trail: Allele

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

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0 Driven By

2 Publication categories

Trail: Allele