Exon 3 was replaced with one in which nucleotide substitutions that result in the amino acid substitution of aspartice acid for tryptophan at position 120 (Y120D). This mutation occurs in the methyl-binding domain and replicates a mutation found in Rett syndrome patients. An FRT-flanked neomycin cassette was inserted downstream of the modified exon 3 in the methyl-binding domain. (J:268051)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count