Phenotypes Associated with This Genotype

Genotype
MGI:7277716

• Allelic Composition: Slc7a14^em1Jin/Slc7a14^em1Jin
• Genetic Background: C57BL/6J-Slc7a14^em1Jin

• ♀: 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 age 3.5 months

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

N • normal number of synaptic ribbons in apical or low apical cochlear turns at age 3.5 months

absent cochlear inner hair cells ( J:323825 )

• in apical and low apical cochlear regions at age 3 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 3.5 months

• normal at age 2 month

sensorineural hearing loss ( J:323825 )

• progressive hearing loss from age 3.5 months

vision/eye

short photoreceptor outer segment ( J:323825 )

• at age 3.5 months

decreased total retina thickness ( J:323825 )

• at age 3.5 months

nervous system

absent cochlear inner hair cells ( J:323825 )

• in apical and low apical cochlear regions at age 3 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

short photoreceptor outer segment ( J:323825 )

• at age 3.5 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
blindness		DOID:1432		J:323825
sensorineural hearing loss		DOID:10003		J:323825