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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)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
