Phenotypes Associated with This Genotype

Genotype
MGI:4838205

• Allelic Composition: Tg(Eno2-TOR1A*)13Shas/0
• Genetic Background: involves: C3H * C57BL/6J

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

behavior/neurological

abnormal behavior ( J:95447 )

• 40% of mice exhibit abnormal behavior on visual inspection unlike wild-type mice

• behavioral abnormalities emerge between 3 and 10 weeks of age and the severity of symptoms increases with age

limb grasping ( J:95447 )

• in 42 of 66 mice

dystonia ( J:95447 )

• mice exhibit dystonic like movements in their limbs unlike wild-type mice

head shaking ( J:95447 )

• in 4 mice

head tilt ( J:95447 )

• in 4 mice

hyperactivity ( J:95447 )

bidirectional circling ( J:95447 )

abnormal nursing ( J:95447 )

♀ • due to hyperkinetic behavior of dams

muscle

dystonia ( J:95447 )

• mice exhibit dystonic like movements in their limbs unlike wild-type mice

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:95447 )

N • mice exhibit normal cochlear and vestibular function

homeostasis/metabolism

decreased dopamine level ( J:95447 )

• in mice with behavioral abnormalities

increased dopamine level ( J:95447 )

• in mice without behavioral abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 1		DOID:0060730	OMIM:128100	J:95447