Phenotypes Associated with This Genotype

Genotype
MGI:3777618

• Allelic Composition: Slc17a8^tm1Edw/Slc17a8^tm1Edw
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

nervous system

nonconvulsive seizures ( J:132704 )

• mice exhibit intermittent spontaneous cortical seizures lasting up to 2 minutes

• however, mice do not display any behavioral abnormalities

abnormal inner hair cell synaptic ribbon morphology ( J:132704 )

• 26 of 31 inner cell synapses exhibit abnormally thin, elongated ribbons

cochlear ganglion degeneration ( J:132704 )

• mice exhibit progressive neuron loss at all levels of the cochlea that is apparent by P10

abnormal brain wave pattern ( J:132704 )

• mice exhibit frequent interictal spike discharges

decreased synaptic glutamate release ( J:132704 )

• mice do not exhibit no synaptic response in the inner hair cell afferent terminals even when depolarized by elevated potassium

hearing/vestibular/ear

abnormal inner hair cell synaptic ribbon morphology ( J:132704 )

• 26 of 31 inner cell synapses exhibit abnormally thin, elongated ribbons

increased or absent threshold for auditory brainstem response ( J:132704 )

deafness ( J:132704 )

sensorineural hearing loss ( J:132704 )

behavior/neurological

absent startle reflex ( J:132704 )

• mice do not startle to a loud clap

• however, motor and vestibular functions are normal

nonconvulsive seizures ( J:132704 )

• mice exhibit intermittent spontaneous cortical seizures lasting up to 2 minutes

• however, mice do not display any behavioral abnormalities