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A 487 kb insertion into the gene between exons 1 and 2 disrupts the expression of a transcript containing exon 1. The insertion appears to be a duplication and translocation of a more proximal region of chromosome X. A transcript is expressed from an alternate promoter of the gene and results in a protein product that lacks cytoplasmic localization signals and is transported to the nucleus. Total transcript levels are also reduced. (J:104492)
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
