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Whole genome sequencing identified an insertion of an IAPEz element, a subclass of the intracisternal-A particle retrotransposon in the last intron of the gene. The insertion creates an alternative splice site that results in tha last exon being skipped in favor of the retrotransposon and expression of a fusion transcript. The mutant protein fails to increase CpG methylation levels in vitro. (J:237199)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
