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A neo cassette replaced exons 9 and 10. The predicted protein lacks the last two WW domains and the HECT domain. Immunohistochemistry confirmed the inability of the protein product to either bind Smad3 or repress Smad3 transcriptional activity. (J:180221)
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
