Phenotypes Associated with This Genotype

Genotype
MGI:5447073

• Allelic Composition: Tg(Th-Twnk*,-EGFP)2Gcor/0
• Genetic Background: involves: C57BL/6J

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

cellular

abnormal mitochondrial morphology ( J:188914 )

• mice accumulate mitochondrial DNA deletion in the substantia nigra compared with wild-type mice

abnormal cell physiology ( J:188914 )

• decreased proteasome activity in the midbrain

abnormal autophagy ( J:188914 )

• induced autophagy in the substantia nigra pars compacta

abnormal mitochondrial physiology ( J:188914 )

• impaired basal mitochondria respiration rate in the midbrain at 1 to 3 months

nervous system

decreased dopaminergic neuron number ( J:188914 )

• at 16 to 17 and 22 to 23 months

loss of dopaminergic neurons ( J:188914 )

• through autophagy without an increase in reactive oxygen species production

• however, not increase in apoptosis is observed

behavior/neurological

impaired coordination ( J:188914 )

• at 23 months

homeostasis/metabolism

abnormal autophagy ( J:188914 )

• induced autophagy in the substantia nigra pars compacta

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease		DOID:14330	OMIM:PS168600	J:188914