Phenotypes associated with this allele

• Allele Symbol: Slc18a2^tm1Uhl
• Allele Name: targeted mutation 1, George R Uhl
• Allele ID: MGI:3620458
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc18a2^tm1Uhl/Slc18a2^tm1Uhl	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3621909
ht2	Slc18a2^tm1Uhl/Slc18a2^+	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3622426

Genotype
MGI:3621909

hm1

• Allelic Composition: Slc18a2^tm1Uhl/Slc18a2^tm1Uhl
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:42811 )

• all die by postnatal 14

neonatal lethality, incomplete penetrance ( J:42811 )

• more than one-half died by the first postnatal day 1

• no abnormality was found by pathological examination in P1 homozygous mice

Genotype
MGI:3622426

ht2

• Allelic Composition: Slc18a2^tm1Uhl/Slc18a2⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

behavior/neurological

enhanced behavioral response to addictive substance ( J:42811 )

• amphetamine-induced increases in locomotion are enhanced relative to controls

impaired conditioned place preference behavior ( J:42811 )

• amphetamine produces diminished behavioral reward relative to controls, as measured by conditioned place preference

homeostasis/metabolism

increased susceptibility to dopaminergic neuron neurotoxicity ( J:42811 )

• N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine administration produces more than twice the dopamine cell losses

cellular

increased susceptibility to dopaminergic neuron neurotoxicity ( J:42811 )

• N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine administration produces more than twice the dopamine cell losses

nervous system

increased susceptibility to dopaminergic neuron neurotoxicity ( J:42811 )

• N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine administration produces more than twice the dopamine cell losses

mortality/aging

premature death ( J:42811 , J:57671 )

• approximately 10% of heterozygous animals die in midlife without apparent cause (J:42811)

• ten to fifteen percent of heterozygous mice die suddenly before 6 months of age with no apparent cause (J:57671)

cardiovascular system

prolonged QT interval ( J:57671 )

• freely moving heterozygous mice display significantly prolonged QT intervals compared with controls, suggesting vulnerability to lethal arrhythmias

• QTc values were also prolonged in heterozygotes compared to controls

• heterozygous mutant mice displayed no significant heart rate differences from wild type mice when resting, and baseline locomotor activities did not differ between mutant and control mice