Phenotypes Associated with This Genotype

Genotype
MGI:5644283

• Allelic Composition: Tg(Prnp-lacZ/ATXN10*)#Teas/0
• Genetic Background: involves: FVB/N

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

behavior/neurological

abnormal behavior ( J:222081 )

• mice show continuous running around the cage when the cage is moved, indicating a preconvulsant behavior

increased susceptibility to pharmacologically induced seizures ( J:222081 )

• mice exhibit increased susceptibility to pentylenetetrazol-induced seizures

decreased exploration in new environment ( J:222081 )

• mice are hesitant to investigate surroundings when placed in a new environment

poor grooming ( J:222081 )

abnormal vibrissae reflex ( J:222081 )

• abnormal whisker twitch reflex

limb grasping ( J:222081 )

• all mice at 6 months of age, and fewer than half at 3 months, exhibit abnormal hindlimb clasping reflex

ataxia ( J:222081 )

• mice begin to show ataxic gait at 6 months of age, that involves awkward movements of the hindlimbs

abnormal gait ( J:222081 )

• greater variability in the width of steps

• however, no differences are seen on fixed-speed or accelerated rotarod

short stride length ( J:222081 )

decreased locomotor activity ( J:222081 )

• in the open field, mice travel a lesser distance at a slower speed than wild-type mice

• mice spend less time traveling at a speed greater than 50 mm/sec and exhibit fewer crossings

• however, no differences are seen in the amount of time spend in the center versus the outside of the arena

nervous system

increased susceptibility to pharmacologically induced seizures ( J:222081 )

• mice exhibit increased susceptibility to pentylenetetrazol-induced seizures

abnormal brain morphology ( J:222081 )

• RNA aggregates containing expanded AUUCU repeats are seen in the brain of 3 and 6 month old mice

brain vacuoles ( J:222081 )

• frontal lobe contains neurons with large vacuoles

• vacuoles increase in number and magnitude with increasing age such that brains at 3 months of age contain small vacuoles in about 20% of neurons, while brains at 18 months contain large vacuoles in nearly 100% of neurons

• vacuoles contain glycogen

neuron degeneration ( J:222081 )

• loss of neurons in the CA3 region of the hippocampus, in the pontine nuclei, and in the cerebral cortex, but not in the cerebellum, at 6 months of age, with many atrophic neurons showing small perikarya, corkscrew-like dendrites, and dense basophilic nuclei

• however, no evidence of apoptosis or gliosis is seen in the brain

hippocampal neuron degeneration ( J:222081 )

• loss of neurons in the CA3 region of the hippocampus at 6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinocerebellar ataxia type 10		DOID:0050960	OMIM:603516	J:222081