Phenotypes associated with this allele

• Allele Symbol: Slc6a5^m1J
• Allele Name: mutation 1, Jackson
• Allele ID: MGI:5086232
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc6a5^m1J/Slc6a5^m1J	involves: 129S2/SvPas * NOD	MGI:5427087
ht2	Slc6a5^m1J/Slc6a5^+	involves: 129S2/SvPas * NOD	MGI:5427088

Genotype
MGI:5427087

hm1

• Allelic Composition: Slc6a5^m1J/Slc6a5^m1J
• Genetic Background: involves: 129S2/SvPas * NOD

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

mortality/aging

postnatal lethality, complete penetrance ( J:184306 )

• mice only survive for two weeks after birth

muscle

muscle hypertonia ( J:184306 )

• stiffness at P5

muscle spasm ( J:184306 )

• generalized, handling induced at P5

nervous system

abnormal neuromuscular synapse morphology ( J:184306 )

• between P6 and P9, mice exhibit a decrease in polyinnervated neuromuscular junctions compared with wild-type mice

abnormal neuron physiology ( J:184306 )

• hyperactive motor neurons

growth/size/body

decreased body weight ( J:184306 )

• at P5

Genotype
MGI:5427088

ht2

• Allelic Composition: Slc6a5^m1J/Slc6a5⁺
• Genetic Background: involves: 129S2/SvPas * NOD

behavior/neurological

behavior/neurological phenotype ( J:184306 )

N • mice exhibit normal pain sensitivity and anxiety levels

increased grooming behavior ( J:184306 )

hyperactivity ( J:184306 )

• context-dependent

abnormal sleep behavior ( J:184306 )

• reduced sleeping time during the dark phase