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A human PAC (PAC671D9) containing only the MECP2 locus and regulatory elements was modified to introduce a R111G (AGG to GGG) missense mutation in the methyl-CpG binding domain (MPD) of exon 3 and a C-terminal GFP tag. Expression of the transgene parallels that of endogenous MECP2 in the brain. (J:214143)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
