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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129
Targeted
Nucleotide substitutions
--
1
15
2

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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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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