Phenotypes Associated with This Genotype

Genotype
MGI:5495915

• Allelic Composition: Ddc^tm1.1Nwlh/Ddc^tm1.1Nwlh
• Genetic Background: involves: C57BL/6

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:197646 )

• half of mice are born alive

behavior/neurological

abnormal motor learning ( J:197646 )

• adult mice exhibit impaired motor learning compared with wild-type mice

increased anxiety-related response ( J:197646 )

• in an elevated plus maze

increased thigmotaxis ( J:197646 )

• in an open field

limb grasping ( J:197646 )

tremors ( J:197646 )

• resting tremors

impaired coordination ( J:197646 )

• on a rotarod in young and adult mice with gradual improvement after weaning

• in the daytime, adult mice spend less time hanging than wild-type mice

jerky movement ( J:197646 )

• in daytime and nighttime

abnormal locomotor activation ( J:197646 )

• dyskinesia

akinesia ( J:197646 )

increased vertical activity ( J:197646 )

• apomorphine-treated mice exhibit increased activity and rearing compared with wild-type mice

decreased locomotor activity ( J:197646 )

induced hyperactivity ( J:197646 )

• apomorphine-treated mice exhibit increased activity and rearing compared with wild-type mice

abnormal maternal nurturing ( J:197646 )

♀ • poor maternal care

homeostasis/metabolism

abnormal dopamine level ( J:197646 )

• L-DOPA accumulates, especially in young mice

decreased dopamine level ( J:197646 )

• in the brain

abnormal noradrenaline level ( J:197646 )

• lower norepinephrine levels in the brain

decreased serotonin level ( J:197646 )

• in the brain

cardiovascular system

decreased heart rate ( J:197646 )

• in adult mice

decreased systemic arterial systolic blood pressure ( J:197646 )

• in adult mice

growth/size/body

decreased body size ( J:197646 )

• at P10 with gradual improvement after weaning

postnatal growth retardation ( J:197646 )

• from birth to weaning

vision/eye

delayed eyelid opening ( J:197646 )

blepharoptosis ( J:197646 )

nervous system

abnormal synaptic neurotransmitter level ( J:197646 )

• lower DOPAC, HVA and 5-HIAA neurotransmitter metabolites in the brain

• adult neurotransmitter levels are higher than in infants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aromatic L-amino acid decarboxylase deficiency		DOID:0090123	OMIM:608643	J:197646