Phenotypes Associated with This Genotype

Genotype
MGI:5142236

• Allelic Composition: Tg(Pcp2-TBP*)69Hmhl/0
• Genetic Background: involves: FVB/N

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

behavior/neurological

limb grasping ( J:174239 )

• mutants exhibit clasping when held by the tail

ataxia ( J:174239 )

• mutants exhibit ataxia beginning at 2 months of age

impaired coordination ( J:174239 )

• 2 and 4 month old mutants perform poorly on an accelerating rotarod and show continued declines in fall latency on the rod

• treatment of mutants with granulocyte-colony stimulating factor improves rotatod performance

abnormal gait ( J:174239 )

• 3 month old mutants exhibit abnormal gait, with impaired step rhythm and reduction in step length compared to controls

short stride length ( J:174239 )

increased vertical activity ( J:174239 )

• mutants rear more often during locomotor task than controls

increased locomotor activity ( J:174239 )

• locomotor hyperactivity, with mutants moving significantly longer distances than controls

• treatment of mutants with granulocyte-colony stimulating factor ameliorates locomotor hyperactivity

nervous system

brain inflammation ( J:174239 )

• marker analysis indicates an increase in inflammation in the cerebella

• treatment of mutants with granulocyte-colony stimulating factor decreases inflammation

abnormal brainstem morphology ( J:174239 )

• brainstem is reduced compared to controls

• atrophy of the brainstem

abnormal basal ganglion morphology ( J:174239 )

abnormal globus pallidus morphology ( J:174239 )

• cell loss in the globus pallidus of the subcortical region

abnormal dorsal striatum morphology ( J:174239 )

• cell loss in the caudate putamen

abnormal nucleus accumbens morphology ( J:174239 )

• cell loss in the accumbens nucleus

abnormal subthalamic nucleus morphology ( J:174239 )

• subthalamic nucleus loss

abnormal cerebral cortex morphology ( J:174239 )

• cell loss in the cerebral cortex

abnormal Purkinje cell morphology ( J:174239 )

• Purkinje cell neurite loss

abnormal cerebellar molecular layer ( J:174239 )

• Purkinje cell disruption in the molecular layer

• molecular layer is reduced

abnormal cerebellum dentate nucleus morphology ( J:174239 )

• loss of neurons in the dentate nucleus

small cerebellum ( J:174239 )

• cerebellar size is reduced

• mutants begin to show reduced cerebellar weight at 6 weeks of age

• treatment of mutants with granulocyte-colony stimulating factor results in partial recovery of cerebellar size

cerebellum atrophy ( J:174239 )

• atrophy of the cerebellum

gliosis ( J:174239 )

• reactive gliosis is seen in the cerebellum but not the brainstem

• treatment of mutants with granulocyte-colony stimulating factor decreases gliosis

neuron degeneration ( J:174239 )

• loss of neurons in the dentate nucleus of the cerebellum

• cell loss in the cerebral cortex, caudate putamen, and globus pallidus of the subcortical region, and the accumbens nucleus

hippocampal neuron degeneration ( J:174239 )

• atrophy and CA1 cell loss of the hippocampus

Purkinje cell degeneration ( J:174239 )

• Purkinje cell density is reduced along the Purkinje cell layer

• treatment of mutants with granulocyte-colony stimulating factor increase in Purkinje dendritic complexity and cell numbers

immune system

brain inflammation ( J:174239 )

• marker analysis indicates an increase in inflammation in the cerebella

• treatment of mutants with granulocyte-colony stimulating factor decreases inflammation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 17		DOID:0050967	OMIM:607136	J:174239