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EN
Exon 2 was replaced with one in which coding nucleotide 330 (C), the third base of alanine codon 110 in the middle of the first poly-alanine stretch, was replaced with a G and had seven GCG alanine codons inserted after it (c.330C>GGCGGCGGCGGCGGCGGCGGCG). The resulting protein mutation (p.(A110_A111delinsAAAAAAAAA)) mimics a muation found in some X-linked mental retardation patients. A neomycin resistance gene cassette was inserted in to intron 1. (J:152416)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
