Phenotypes associated with this allele

• Allele Symbol: Slc18a2^tm1Edw
• Allele Name: targeted mutation 1, Robert H Edwards
• Allele ID: MGI:3574768
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc18a2^tm1Edw/Slc18a2^tm1Edw	involves: 129X1/SvJ	MGI:3577888
hm2	Slc18a2^tm1Edw/Slc18a2^tm1Edw	involves: 129X1/SvJ * C57BL/6	MGI:3582058
ht3	Slc18a2^tm1Edw/Slc18a2^+	involves: 129X1/SvJ * C57BL/6	MGI:3582059

Genotype
MGI:3577888

hm1

• Allelic Composition: Slc18a2^tm1Edw/Slc18a2^tm1Edw
• Genetic Background: involves: 129X1/SvJ

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

nervous system

abnormal dopaminergic neuron morphology ( J:96932 )

• synaptic vesicles do not contain dopamine and are empty, however biogenesis and cycling of these empty synaptic vesicles is normal, indicating that vesicle filling with dopamine is disturbed

abnormal synaptic vesicle morphology ( J:96932 )

• synaptic vesicles do not contain dopamine and are empty

abnormal neurotransmitter secretion ( J:96932 )

• absence of synaptic dopamine release, however no differences in the total number of synaptic vesicles per dopamine terminal or in the density of synaptic vesicles within dopamine terminals

homeostasis/metabolism

decreased dopamine level ( J:96932 )

• dopamine is not stored in synaptic vesicles and is rapidly degraded in the cytoplasm

Genotype
MGI:3582058

hm2

• Allelic Composition: Slc18a2^tm1Edw/Slc18a2^tm1Edw
• Genetic Background: involves: 129X1/SvJ * C57BL/6

mortality/aging

postnatal lethality, complete penetrance ( J:45183 )

• die within the first week of life

growth/size/body

decreased body size ( J:45183 )

decreased body weight ( J:45183 )

• do not gain weight

behavior/neurological

absent gastric milk in neonates ( J:45183 )

• feed poorly with little if any milk visible in their stomachs

bradykinesia ( J:45183 )

• relatively little movement although they do move vigorously in response to mild pain

nervous system

abnormal neurotransmitter secretion ( J:45183 )

• show no vesicular monoamine transport activity or exocytotic monoamine release in the brain

homeostasis/metabolism

decreased dopamine level ( J:45183 )

• brains exhibit dopamine levels at approximately 1.5% of wildtype levels

• midbrain neuron cultures show a major reduction in dopamine release and no exoctytotic release of dopamine from synaptic vesicles in response to depolarization for 2 min with elevated potassium

• midbrain neuron cultures release only about 35% as much dopamine in response to amphetamine than in wildtype

abnormal noradrenaline level ( J:45183 )

• brains exhibit norepinephrine levels at approximately 6% of wildtype levels

abnormal serotonin level ( J:45183 )

• brains exhibit serotonin levels at approximately 1% of wildtype levels

Genotype
MGI:3582059

ht3

• Allelic Composition: Slc18a2^tm1Edw/Slc18a2⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

homeostasis/metabolism

decreased dopamine level ( J:45183 )

• contain 58% as much dopamine as wildtype

• midbrain cultures contain only about 75% as much dopamine as control cultures and release 47% as much dopamine in response to depolarization for 2 min with elevated potassium

abnormal noradrenaline level ( J:45183 )

• contain 77% as much norepinephrine as wildtype

abnormal serotonin level ( J:45183 )

• contain 66% as much serotonin as wildtype