| Phenotype: | macula stereocilium bundle 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: | macula |
|---|---|
| Synonyms: | maculae, sensory macula, sensory patch |
| Definition: | Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. Each patch has its own characteristic shape and polarity pattern. (See Anatomical Atlas entry for sensory patches of the ear by T. Whitfield.) |
| Ontology: | Anatomy Ontology [ZFA:0000386] |
| Name: | stereocilium bundle |
|---|---|
| Synonyms: | stereocilia bundle |
| Definition: | A bundle of cross-linked stereocilia, arranged around a kinocilium on the apical surface of a sensory hair cell (e.g. a neuromast, auditory or vestibular hair cell). Stereocilium bundles act as mechanosensory organelles by responding to fluid motion or fluid pressure changes. |
| Ontology: | GO: Cellular Component [GO:0032421] QuickGO AmiGO |
EXPRESSED GENE:
| Symbol: | ush2a | ||||||||||||
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| 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 |
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| Synonyms: | absence, absent from organism |
| Definition: | A quality denoting the lack of an entity. |
| Ontology: | Phenotypic Quality Ontology [PATO:0000462] |