Mecp2^{em1(MECP2*)Gfng}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mecp2^{em1(MECP2*)Gfng}
• Name: methyl CpG binding protein 2; endonuclease-mediated mutation 1, Guoping Feng
• MGI ID: MGI:6886058
• Synonyms: Mecp2^em1Gfng, Mecp2 huExon4*R270X
• Gene: Mecp2 Location: ChrX:73070198-73129296 bp, - strand Genetic Position: ChrX, 37.63 cM
• Alliance: Mecp2^{em1(MECP2*)Gfng} page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mecp2^{em1(MECP2*)Gfng} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MECP2 (4204)

  Mecp2

  (MGI:99918)

  Human exon 4

• Mutation details: 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). (J:101977)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Mecp2 Mutation: 46 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)