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A decamer duplication in the 3' region of the gene (right before the stop codon within exon 6, that leads to the production of a longer, 277 aa protein) was inserted. In addition, a humanizing substitution A-G (acc-gcc = Threonine-Alanine) at the 12th codon of exon 6 was introduced. Western blot analysis detected marked expression of the mutant precursor protein. (J:155411)
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
