Phenotypes Associated with This Genotype

Genotype
MGI:4429145

• Allelic Composition: Klc1^tm1Gsn/Klc1^tm1Gsn
• Genetic Background: B6.129-Klc1^tm1Gsn

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

nervous system

abnormal brain white matter morphology ( J:148380 )

• reduction of white matter is observed in corpus callosum

tau protein deposits ( J:148380 )

• phosphorylated tau deposits are observed in ventral axons along roots of the spinal cord, however, no abnormal accumulations are observed in neuronal cell bodies

• soluble levels of total and phosphorylated tau are increased in brainstem and spinal cord, and insoluble tau forms are increased in spinal cord, however, overall levels are similar to wild-type

abnormal axon morphology ( J:148380 )

• proximal axonal swelling is visible in cervical spinal cord, swelling is progressive and age-dependent

• axonal swelling observed in ventral roots of spinal cord

• the number of large caliber axons are reduced in peripheral motor roots

• swollen and distended axons with disrupted microtubule networks, anomalous tubuloreticular structures and atypical accumulations of membrane stacks are observed in hippocampal neurons

abnormal spinal cord white matter morphology ( J:148380 )

• reduction of white matter is observed in the cervical spinal cord

axon degeneration ( J:148380 )

• degeneration is observed in the corpus callosum, anterior commissure of the brain in 18 month old mice

axonal dystrophy ( J:148380 )

• giant axonal enlargements are observed proximal to motor neuron cell bodies in ventral spinal cord

• giant dystrophies have massive neurofilament accumulation with intermingled vesicles

abnormal axonal transport ( J:148380 )

• polarized neurons transiently transfected with a YFP-APP fusion exhibit a decrease in the proportion of amyloid precursor protein (APP) vesicles moving in the anterograde direction, an increase in retrograde vesicles and a reduction in net velocity and average run length for anterograde and retrograde vesicles

• phosphorylated neurofilaments are increased in the dentate gyrus and CA1 region in 18 month old mice