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A 5542 bp early transposablle element (Y17106) is inserted 61 bp upstream of the 5' intron/exon junction of exon 10 but in intron 9. The resulting protein migrated in western blots as a 40KDa band rather than the normal 55KDa size, indicating a truncated protein. The loss of 132 amino acids from the COOH-terminus results in the failure of trimer formation. (J:124225)
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
