Phenotype: | photoreceptor outer segment layer bbs1 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: | photoreceptor outer segment layer |
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Synonyms: | photoreceptor outer segment layers |
Definition: | Layer of the retina composed of the outer segments of the photoreceptor cells. The photoreceptor outer segment is a specialized primary cilium consisting of a microtubule-based axoneme and regular stacks of membrane folds or disks containing the photopigments (opsins) required for the phototransduction cascade. |
Ontology: | Anatomy Ontology [ZFA:0001466] |
EXPRESSED GENE:
Symbol: | bbs1 | ||||||
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Name: | Bardet-Biedl syndrome 1 | ||||||
Previous Name: | im:7144669 | ||||||
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Location: | Chr: 21 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] |