| Phenotype: | Kupffer's vesicle ciliary base cep290 expression absent, abnormal |
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| Note: | This phenotype statement describes a gene expression or antibody labeling pattern. Anatomy terms are combined with a gene or antibody and phenotype quality. |
EXPRESSION ANATOMY:
| Name: | Kupffer's vesicle |
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| Synonyms: | ciliated organ of asymmetry |
| Definition: | Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node. |
| Ontology: | Anatomy Ontology [ZFA:0000001] |
| Name: | ciliary base |
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| Synonyms: | cilial base, cilium base, flagellar base, flagellum base |
| Definition: | Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area. |
| Ontology: | GO: Cellular Component [GO:0097546] QuickGO AmiGO |
EXPRESSED GENE:
| Symbol: | cep290 | ||||||||||||
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| Name: | centrosomal protein 290 | ||||||||||||
| Previous Names: | im:7145703, im:7147820 (1), nephrocystin-6 (1), nphp6 (1) | ||||||||||||
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| Location: | Chr: 25 Mapping Details/Browsers | ||||||||||||
EXPRESSION QUALITY:
| Name: | absent |
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| Synonyms: | absence, absent from organism |
| Definition: | A quality denoting the lack of an entity. |
| Ontology: | Phenotypic Quality Ontology [PATO:0000462] |