| Phenotype: | photoreceptor cell periciliary membrane compartment ush2a expression absent, abnormal |
|---|---|
| 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 cell |
|---|---|
| Synonyms: | photoreceptor cells |
| Definition: | A cell specialized to detect and transduce light. |
| Ontology: | Anatomy Ontology [ZFA:0009127] |
| Name: | periciliary membrane compartment |
|---|---|
| Synonyms: | PCMC |
| Definition: | A plasma membrane region adjacent to the base of eukaryotic cilia and flagella that is enriched in endocytosis-associated proteins and vesicles and that appears to regulate ciliary membrane homeostasis. |
| Ontology: | GO: Cellular Component [GO:1990075] QuickGO AmiGO |
EXPRESSED GENE:
| Symbol: | ush2a | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Name: | Usher syndrome 2A (autosomal recessive, mild) | ||||||||||||
| Previous Name: | si:ch211-279e11.1 | ||||||||||||
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| Location: | Chr: 17 Mapping Details/Browsers | ||||||||||||
EXPRESSION QUALITY:
| Name: | absent |
|---|---|
| Synonyms: | absence, absent from organism |
| Definition: | A quality denoting the lack of an entity. |
| Ontology: | Phenotypic Quality Ontology [PATO:0000462] |