Phenotypes Associated with This Genotype

Genotype
MGI:6720848

• Allelic Composition: Chchd2^tm1Noha/Chchd2^tm1Noha
• Genetic Background: C57BL/6-Chchd2^tm1Noha

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

behavior/neurological

abnormal motor coordination/balance ( J:307383 )

• little movement on the beam and frequent slipping of hindlimbs in runway test from age 115 weeks

impaired coordination ( J:307383 )

• reduced latency to fall in rotarod test from age 115 weeks

cellular

disorganized mitochondrial cristae ( J:307383 )

• irregular structure in dopaminergic substantia nigra neurons at age 120 weeks

abnormal mitochondrial matrix morphology ( J:307383 )

• irregular structure in dopaminergic substantia nigra neurons at age 120 weeks

abnormal mitochondrial shape ( J:307383 )

• small, round and fragmented in dopaminergic substantia nigra neurons at age 120 weeks

decreased mitochondrial size ( J:307383 )

• small, round and fragmented in dopaminergic substantia nigra neurons at age 120 weeks

impaired autophagy ( J:307383 )

• accumulation of aggregates (Lewy bodies) in dopaminergic substantia nigra neurons at age 120 weeks

growth/size/body

growth/size/body region phenotype ( J:307383 )

N • normal body weight

homeostasis/metabolism

impaired autophagy ( J:307383 )

• accumulation of aggregates (Lewy bodies) in dopaminergic substantia nigra neurons at age 120 weeks

mortality/aging

mortality/aging ( J:307383 )

N • viable, normal survival rate, normal lifespan

nervous system

nervous system phenotype ( J:307383 )

N • normal number of cell bodies in brain at age 120 weeks

decreased dopaminergic neuron number ( J:307383 )

• lower abundance of tyrosine hydroxylase (TH)-positive neurons in brain at age 120 weeks

Lewy bodies ( J:307383 )

• appearance of Lewy bodies in dopaminergic substantia nigra neurons at age 120 weeks