Symbol
Name
ID

Pdzd7
PDZ domain containing 7
MGI:3608325

Phenotype annotations related to hearing/vestibular/ear

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Abnormal vestibular function	Sensorineural hearing impairment	Congenital sensorineural hearing impairment	Hearing impairment
Disease(s) Associated with PDZD7	Abnormal vestibular function	Sensorineural hearing impairment	Congenital sensorineural hearing impairment	Hearing impairment
autosomal recessive nonsyndromic deafness 57
Usher syndrome type 2A
Usher syndrome type 2C

Mouse Phenotypes

hearing/vestibular/ear phenotype

abnormal outer hair cell kinocilium location or orientation

abnormal outer hair cell stereociliary bundle morphology

decreased outer hair cell stereocilia number

abnormal cochlear outer hair cell morphology

abnormal cochlear outer hair cell physiology

decreased cochlear microphonics

abnormal hair cell mechanoelectric transduction

increased or absent threshold for auditory brainstem response

abnormal distortion product otoacoustic emission

deafness

Availability

Mouse Genotype

Pdzd7^mpc265H/Pdzd7^mpc265H

Pdzd7^{tm1a(EUCOMM)Wtsi}/Pdzd7^{tm1a(EUCOMM)Wtsi}

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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