Phenotypes Associated with This Genotype

Genotype
MGI:6107698

• Allelic Composition: Thap1^tm1.2Meeh/Thap1⁺
• Genetic Background: involves: 129S/SvEv * BALB/cJ * C3H * C57BL/6

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

behavior/neurological

abnormal locomotor coordination ( J:226849 )

• females display increase in foot-slips on narrow beam in beam walking challenge

• females are slower in both orienting downwards and descending in pole test

• males are faster orienting downwards in pole test

decreased gait width ( J:226849 )

♀ • 10% decrease in forepaw base width and 20% increase in front and hind paw overlap

increased gait width ( J:226849 )

♂ • 17% increase in forepaw base width

long stride length ( J:226849 )

♂ • 5% increase in forepaw stride length

nervous system

decreased brain size ( J:226849 )

abnormal cerebellum dentate nucleus morphology ( J:226849 )

• hypocellularity: 40% decrease in cell number

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
torsion dystonia 6		DOID:0090039	OMIM:602629	J:226849