Phenotypes associated with this allele

• Allele Symbol: Trak1^hyrt
• Allele Name: hypertonic
• Allele ID: MGI:3044768
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trak1^hyrt/Trak1^hyrt	B6C3Fe a/a-Trak1^hyrt/J	MGI:3044777
hm2	Trak1^hyrt/Trak1^hyrt	involves: AKR * C3HeB/FeJ * C57BL/6J	MGI:3615358

Genotype
MGI:3044777

hm1

• Allelic Composition: Trak1^hyrt/Trak1^hyrt
• Genetic Background: B6C3Fe a/a-Trak1^hyrt/J

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

behavior/neurological

impaired coordination ( J:90779 )

weakness ( J:90779 )

• weakness

• display hypertonicity and spasticity

abnormal posture ( J:90779 )

Genotype
MGI:3615358

hm2

• Allelic Composition: Trak1^hyrt/Trak1^hyrt
• Genetic Background: involves: AKR * C3HeB/FeJ * C57BL/6J

mortality/aging

premature death ( J:105231 )

• some deaths among adolescent mice but most have normal life spans

behavior/neurological

tremors ( J:105231 )

• slight tremors

• first noticeable at 2 weeks of age

jerky movement ( J:105231 )

• first noticeable at 2 weeks of age

hunched posture ( J:105231 )

• first noticeable at 2 weeks of age

abnormal gait ( J:105231 )

• stiff gait

• first noticeable at 2 weeks of age

muscle

abnormal muscle physiology ( J:105231 )

• highly elevate baseline motor unit activity in muscles of both forelimb and hind limb

• motor unit activity reduced by diazepam which enhances GABAergic transmission

nervous system

abnormal neuron morphology ( J:105231 )

• oval shaped aggregates of vescicular structures with 2-layer membranes in the gray matter of brainstem and spinal cord

• inclusions found in neuronal processes only, possibly in dendrites

• become detectable at 2-4 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Stiff-Person syndrome		DOID:13366	OMIM:184850	J:105231