Phenotypes Associated with This Genotype

Genotype
MGI:2174736

• Allelic Composition: Slc12a2^sy-ns/Slc12a2^sy-ns
• Genetic Background: involves: C57BL/6 * MK/ReJ

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

behavior/neurological

head bobbing ( J:50578 )

circling ( J:50578 )

hearing/vestibular/ear

abnormal ear morphology ( J:56631 )

collapsed Reissner membrane ( J:56631 )

• both Reissner's membrane in the cochlea and the walls of the vestibular compartments exhibited extensive collapse

• Reissner's membrane appeared to be fused with underlying structures

abnormal interdental cell morphology ( J:56631 )

abnormal semicircular canal morphology ( J:56631 )

• thin semicircular canals

abnormal membranous labyrinth morphology ( J:56631 )

• collapse of endolymphatic space

absent cochlear hair cells ( J:56631 )

abnormal organ of Corti supporting cell morphology ( J:56631 )

• fail to develop a normal cytoarchitecture

abnormal stria vascularis morphology ( J:56631 )

abnormal sulcus ampullaris morphology ( J:56631 )

• inner and outer sulcus epithelia fail to develop a normal cytoarchitecture

increased or absent threshold for auditory brainstem response ( J:50578 )

• no discernible auditory brainstem responses (ABR) to maximum output stimuli at 99 dB

deafness ( J:50578 )

• profoundly deaf at 2-3 month of age

nervous system

absent cochlear hair cells ( J:56631 )