Phenotypes Associated with This Genotype

Genotype
MGI:3625738

• Allelic Composition: Kcnj6^wv/Kcnj6^wv
• Genetic Background: involves: C57BL/6

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

nervous system

abnormal cochlear VIII nucleus morphology ( J:121314 )

• loss of cartwheel cells in the dorsal cochlear nucleus is modest

• less granule cell loss

decreased Purkinje cell number ( J:121314 )

• scattered Purkinje cells beneath a thin molecular layer

abnormal cerebellar granule cell morphology ( J:35792 )

• in cultured cerebellar granule cells, very little inwardly rectifying K+ current can be evoked with somatostatin or by direct activation of G proteins, compared to wild-type cells

small cerebellum ( J:6875 )

• weight is 56% of control weight at 7 days (80% of controls for heterozygotes)

• weight of cerebellum is normal at 3 days of age

abnormal CNS synaptic transmission ( J:35792 )

abnormal synaptic glutamate release ( J:6875 )

• levels low at 7 and 21 days

abnormal synaptic neurotransmitter level ( J:6875 )

• taurine levels are 64% of control levels at 7 days of age

• aspartate, glutamine, and serine levels low at 10 days

homeostasis/metabolism

decreased taurine level ( J:6875 )

• taurine levels are 64% of control levels at 7 days of age