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Exon 3 was replaced with a neo cassette. The absence of full-length protein product was confirmed by western blot analysis on whole cell extracts from E13.5 primary embryonic fibroblasts. A truncated protein product is observed at low levels in western blots of conditioned media from E13.5 primary embryonic fibroblasts but lacks the VWC domain. (J:135676)
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
