Phenotypes Associated with This Genotype

Genotype
MGI:3709041

• Allelic Composition: Myo7a^polka/Myo7a^polka
• Genetic Background: involves: C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

decreased startle reflex ( J:119820 )

• low auditory startle response

impaired swimming ( J:119820 )

• disoriented

circling ( J:119820 )

hearing/vestibular/ear

abnormal cochlear hair cell stereociliary bundle morphology ( J:157102 )

• stereociliary bundles are disorganized in all four rows of hair cells of the cochlear sensory epithelium

• often lacking clear polarity

short cochlear hair cell stereocilia ( J:157102 )

• stereocilia are often short

increased or absent threshold for auditory brainstem response ( J:119820 )

• auditory threshold of more than 90 dB, indicating that lines are severely hearing impaired in 8- to 12 week old animals

absent distortion product otoacoustic emissions ( J:157102 )

• not detectable

vision/eye

abnormal retina pigment epithelium morphology ( J:157102 )

• melanosomes fail to localize to the apical processes of retinal pigment cells

nervous system

abnormal cochlear hair cell stereociliary bundle morphology ( J:157102 )

• stereociliary bundles are disorganized in all four rows of hair cells of the cochlear sensory epithelium

• often lacking clear polarity

short cochlear hair cell stereocilia ( J:157102 )

• stereocilia are often short

pigmentation

abnormal retina pigment epithelium morphology ( J:157102 )

• melanosomes fail to localize to the apical processes of retinal pigment cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Usher syndrome type 1		DOID:0110826	OMIM:276900	J:157102