Phenotypes Associated with This Genotype

Genotype
MGI:7587718

• Allelic Composition: Del(14Gjb6-Cryl1)1Lmon/Del(14Gjb6-Cryl1)1Lmon
• Genetic Background: C57BL/6JOlaHsd-Del(14Gjb6-Cryl1)1Lmon/Lmon

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

hearing/vestibular/ear

abnormal pillar cell morphology ( J:345081 )

• joined internal and external pillars

abnormal tunnel of Corti morphology ( J:345081 )

• absence or reduction of tunnel of Corti, defects are more evident in the cochlear basal and middle turns

enlarged tectorial membrane ( J:345081 )

• a thickened tectorial membrane

abnormal sulcus ampullaris morphology ( J:345081 )

• large inner sulcus cells, attached to the tectorial membrane

• absence or reduction of the internal spiral sulcus

increased or absent threshold for auditory brainstem response ( J:345081 )

• in response to click and tone-burst stimuli

• absent after click stimulation, even at the maximum sound intensity employed (90 dB SPL)

deafness ( J:345081 )

• severe to profound hearing loss

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 1A		DOID:0110475	OMIM:220290	J:345081