Phenotypes associated with this allele

• Allele Symbol: Chchd2^tm1Noha
• Allele Name: targeted mutation 1, Nobutaka Hattori
• Allele ID: MGI:6342881
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chchd2^tm1Noha/Chchd2^tm1Noha	C57BL/6-Chchd2^tm1Noha	MGI:6720848
hm2	Chchd2^tm1Noha/Chchd2^tm1Noha	involves: C57BL/6	MGI:6362856

Genotype
MGI:6720848

hm1

• 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

Genotype
MGI:6362856

hm2

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

normal phenotype

no abnormal phenotype detected ( J:251684 )

• mice develop normally; mouse embryonic fibroblasts (MEFs) prepared from E13.5-15.5embryos do not exhibit any detectable abnormalities in mitochondrial crista organization