Phenotypes associated with this allele

• Allele Symbol: Nr4a2^tm1Omc
• Allele Name: targeted mutation 1, Orla M Conneely
• Allele ID: MGI:3043985
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nr4a2^tm1Omc/Nr4a2^tm1Omc	involves: 129S7/SvEvBrd * C57BL/6	MGI:3619914
ht2	Nr4a2^tm1Omc/Nr4a2^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:3619915

Genotype
MGI:3619914

hm1

• Allelic Composition: Nr4a2^tm1Omc/Nr4a2^tm1Omc
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

Loss of Ptx3 expression and increased cell death in ventral midbrain region of newborn Nr4a2^tm1Omc/Nr4a2^tm1Omc mice

cellular

increased midbrain apoptosis ( J:46856 )

• increased apoptosis in mesencephalon

mortality/aging

neonatal lethality, complete penetrance ( J:46856 , J:106612 )

• homozygotes born in normal numbers but die within 12 hours of birth (J:46856)

nervous system

increased midbrain apoptosis ( J:46856 )

• increased apoptosis in mesencephalon

abnormal midbrain development ( J:46856 )

• dopaminergic neurons fail to develop

• late stage precursors of dopaminergic neurons fail to survive

• increased apoptosis in mesencephalon

abnormal substantia nigra morphology ( J:46856 )

• complete loss of dopaminergic neurons in substantia nigra and ventral tegmental area

abnormal tegmentum morphology ( J:46856 )

• complete loss of dopaminergic neurons in substantia nigra and ventral tegmental area

behavior/neurological

abnormal suckling behavior ( J:106612 )

• unable to suckle

decreased locomotor activity ( J:106612 )

• hypoactive at birth

homeostasis/metabolism

decreased dopamine level ( J:46856 )

• complete loss of dopamine from striatum but not other areas of the brain

decreased noradrenaline level ( J:106612 )

• norepinephrine levels reduced 30% in the striatum of homozygotes

Genotype
MGI:3619915

ht2

• Allelic Composition: Nr4a2^tm1Omc/Nr4a2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

nervous system

abnormal midbrain development ( J:106612 )

• significantly reduced (39%) dopaminergic neurons in the substantia nigra and ventral tegmental area

behavior/neurological

impaired coordination ( J:104902 )

• rotarod performance reduced 32% at 15-19 months of age

• rotarod performance reduced 39% at 20-24 months of age

abnormal locomotor activation ( J:104902 )

• increased locomotor performance at 2-10 months of age by 29-48%

• decreased locomotor performance by 27-50% after 15 months of age

homeostasis/metabolism

decreased dopamine level ( J:104902 )

• levels normal at 2-10 months of age

• reduced 32% at 15-19 months and 42% at 20-24 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease		DOID:14330	OMIM:PS168600	J:104902