Phenotypes Associated with This Genotype

Genotype
MGI:6695117

• Allelic Composition: Tmem175^em3Dren/Tmem175^em3Dren
• Genetic Background: C57BL/6J-Tmem175^em3Dren

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

cellular

increased susceptibility to neuronal excitotoxicity ( J:304120 )

• midbrain neurons show much more damage in response to the neurotoxin MPTP

abnormal lysosome physiology ( J:304120 )

• lysosomal K+ currents are reduced in midbrain neurons

homeostasis/metabolism

increased susceptibility to neuronal excitotoxicity ( J:304120 )

• midbrain neurons show much more damage in response to the neurotoxin MPTP

nervous system

increased susceptibility to neuronal excitotoxicity ( J:304120 )

• midbrain neurons show much more damage in response to the neurotoxin MPTP

alpha-synuclein inclusion body ( J:304120 )

• in an in vitro transmission model in which alpha-synuclein preformed fibrils are used to seed endogenous alpha-synuclein into Lewy-like inclusions, neurons accumulate increased alpha-synuclein phosphorylated at S129 2 weeks after exposure compared to wild-type neurons; this accumulation of alpha-synuclein leads to increased damage to the integrity of lysosomal membranes in neurons