Phenotypes Associated with This Genotype

Genotype
MGI:4829686

• Allelic Composition: Slc26a4^loop/Slc26a4^loop
• Genetic Background: involves: C3HeB/FeJ

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

Gross malformation of the vestibular gravity receptor in Slc26a4^loop/Slc26a4^loop mice

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:163655 )

• abnormal giant minerals are not restricted to their native position and are often observed in ectopic regions including the semicircular canals and their cristae

abnormal crista ampullaris morphology ( J:163655 )

abnormal inner ear vestibule morphology ( J:163655 )

abnormal utricle morphology ( J:163655 )

• one and several giant stones are found at all ages examined

abnormal vestibular saccule morphology ( J:163655 )

• at P0, calcite minerals are detected

abnormal otolithic membrane morphology ( J:163655 )

• the otoconial membrane that natively supports the otoconia load is degenerated

absent otoliths ( J:163655 )

• mutant lacks the calcitic otoconia of the utricle and saccule

increased or absent threshold for auditory brainstem response ( J:163655 )

• profoundly deaf at all frequencies tested

deafness ( J:163655 )

abnormal vestibular system physiology ( J:163655 )

• unsteady gait, circling, absence of reaching response, and tilted body.

behavior/neurological

absent pinna reflex ( J:163655 )

abnormal gait ( J:163655 )

circling ( J:163655 )