Phenotypes Associated with This Genotype

Genotype
MGI:5705137

• Allelic Composition: Slc7a14^em1Jqu/Slc7a14^em1Jqu
• Genetic Background: C57BL/6-Slc7a14^em1Jqu

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:323825 )

N • normal distortion product otoacoustic emissions (DPOAEs) at ages 1, 3 and 6 months

N • normal outer hair cell (OHC) stereocilia bundles at age 3 months

N • normal stereocilia bundles on utricle hair cells in sensory macula at age 12 months

absent inner hair cell stereocilia ( J:323825 )

• at age 3 months

decreased inner hair cell stereocilia number ( J:323825 )

• at age 3 months

fused inner hair cell stereocilia ( J:323825 )

• at age 3 months

increased or absent threshold for auditory brainstem response ( J:323825 )

• progressive increase from age 3 to 6 months

• normal at age 1 month

sensorineural hearing loss ( J:323825 )

• progressive hearing loss from age 3 months

vision/eye

thin retina outer nuclear layer ( J:225228 )

decreased total retina thickness ( J:225228 )

• slightly at 2.5 months

abnormal eye electrophysiology ( J:225228 )

• at 2 and 6 months

abnormal rod electrophysiology ( J:225228 )

• lower b-amplitude and longer a-wave at 2 months

nervous system

absent inner hair cell stereocilia ( J:323825 )

• at age 3 months

decreased inner hair cell stereocilia number ( J:323825 )

• at age 3 months

fused inner hair cell stereocilia ( J:323825 )

• at age 3 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sensorineural hearing loss		DOID:10003		J:323825