Phenotypes associated with this allele

• Allele Symbol: Tmem175^em1Dren
• Allele Name: endonuclease-mediated mutation 1, Dejian Ren
• Allele ID: MGI:6695089
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tmem175^em1Dren/Tmem175^em1Dren	B6.Cg-Tmem175^em1Dren	MGI:6695113
ht2	Tmem175^em1Dren/Tmem175^+	B6.Cg-Tmem175^em1Dren	MGI:6695132

Genotype
MGI:6695113

hm1

• Allelic Composition: Tmem175^em1Dren/Tmem175^em1Dren
• Genetic Background: B6.Cg-Tmem175^em1Dren

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

cellular

abnormal autophagy ( J:304120 )

• neurons show accelerated autophagosome-lysosome fusion and an accumulation of undigested autophagosomes

increased cellular sensitivity to hydrogen peroxide ( J:304120 )

• neurons show much more damage in response to insult with reactive oxygen species such as H202

increased susceptibility to neuronal excitotoxicity ( J:304120 )

• neurons show much more damage in response to insults such as the neurotoxin MPTP or nutrient removal

abnormal lysosome physiology ( J:304120 )

• lysosomes in hippocampal neurons from B27-replete medium and starved neurons refed with growth factors lack substantial K+ current

• lysosomal pH is about 0.5 units more alkaline upon starvation than in wild-type

homeostasis/metabolism

abnormal autophagy ( J:304120 )

• neurons show accelerated autophagosome-lysosome fusion and an accumulation of undigested autophagosomes

increased susceptibility to neuronal excitotoxicity ( J:304120 )

• neurons show much more damage in response to insults such as the neurotoxin MPTP or nutrient removal

nervous system

loss of dopaminergic neurons ( J:304120 )

• mice show a decrease of dopaminergic neurons in the substantia nigra pars compacta

• however, the numbers of tyrosine-hydroxylase-positive neurons in the ventral tegmental area are normal

abnormal neuron physiology ( J:304120 )

• neurons show accelerated autophagosome-lysosome fusion and an accumulation of undigested autophagosomes

increased susceptibility to neuronal excitotoxicity ( J:304120 )

• neurons show much more damage in response to insults such as the neurotoxin MPTP or nutrient removal

Genotype
MGI:6695132

ht2

• Allelic Composition: Tmem175^em1Dren/Tmem175⁺
• Genetic Background: B6.Cg-Tmem175^em1Dren

behavior/neurological

impaired coordination ( J:304120 )

• mice perform more poorly in rotarod and wire-hanging tests

• however, mice show no obvious defects in grip strength or in pole tests

cellular

abnormal lysosome physiology ( J:304120 )

• lysosomal K+ current is reduced by about 50% in hippocampal neurons

nervous system

abnormal nervous system tract morphology ( J:304120 )

• mice show an approximate 20% reduction in the size and around 10% reduction in the axon density of dopaminergic nerve bundles projecting from the substantia nigra pars compacta to the striatum

loss of dopaminergic neurons ( J:304120 )

• mice have a small 10% reduction in the number of dopaminergic neurons in the substantia nigra pars compacta