Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MYO7A contributors: shn - updated : 21-06-2016
HGNC name myosin VIIA
HGNC id 7606
ASSOCIATED DISORDERS
corresponding disease(s) DFNB2 , USH1B , DFNA11
related resource Hereditary Hearing Loss Homepage
Hereditary Hearing Loss Homepage
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target shaker1 RPE in preclinical studies on therapies for Usher syndrome 1B do not undergo retinal degeneration and may be a valid preclinical test for potential therapeutic treatments
ANIMAL & CELL MODELS
  • Myo7a mutant mice (shaker1) show hyperactivity, head-tossing and circling due to vestibular dysfunction, together with typical neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti
  • shaker-1 mice display defective melanosome distribution in the retinal pigment epithelium
  • zebrafish defective in myosin VIIA (circler mutant mariner) display morphological and functional defects that are similar to those present in mouse shaker-1: defects specific to sensory hair cell function
  • Myo7a null mice display abnormal phagocytosis of photoreceptor outer segment disks by the retinal pigment epithelium (RPE)