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Exons 3, 4 and 5 that encode the coiled-coiled domain of the gene product were replaced with a neomycin resistance cassette. Immunoblotting of homozygote embryonic fibroblast lysate indicated two truncated proteins were produced. Ectopic expression of similar truncated proteins in wild-type embryonic fibroblasts indicated that the truncated proteins do not interfere in a dominant negative manner with autophagy processes. (J:141420)
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
