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Symbol
Name
ID 		Atp6v1b1
ATPase, H+ transporting, lysosomal V1 subunit B1
MGI:103285
Phenotype annotations related to hearing/vestibular/ear
*Aspects of the system are reported to show a normal phenotype.
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Bilateral sensorineural hearing impairment
Disease(s) Associated with ATP6V1B1
renal tubular acidosis

Mouse Phenotypes
hearing/vestibular/ear phenotype
abnormal cochlea morphology
abnormal Reissner membrane morphology
decreased cochlear outer hair cell number
abnormal organ of Corti morphology
abnormal spiral ligament fibrocyte morphology
abnormal type I spiral ligament fibrocytes
abnormal type III spiral ligament fibrocytes
thin spiral ligament
dilated scala media
small scala tympani
abnormal spiral limbus morphology
abnormal membranous labyrinth morphology
dilated endolymphatic duct
decreased otolith number
abnormal cochlear endolymph ionic homeostasis
decreased endocochlear potential
increased or absent threshold for auditory brainstem response
Availability Mouse Genotype
Atp6v1b1tm1Choo/Atp6v1b1tm1Choo *
Atp6v1b1vtx/Atp6v1b1vtx *! ! ! ! ! ! ! ! ! !
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory