Phenotypes Associated with This Genotype

Genotype
MGI:5516455

• Allelic Composition: Tg(Prnp-ATXN3*148Q)148.19Olri/0
• Genetic Background: involves: C57BL/6N

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

mortality/aging

premature death ( J:122993 )

• die in their third month of age, with no mice surviving past 17 weeks of age

behavior/neurological

abnormal behavior ( J:122993 )

• develop neurological deficits at 2 months of age

• mutants often fail to generate offspring, but it is unclear if this is due to severe behavioral symptoms or infertility

decreased grooming behavior ( J:122993 )

tremors ( J:122993 )

abnormal gait ( J:122993 )

• wide-based hindlimbs

short stride length ( J:122993 )

• reduction in distance between each step

decreased locomotor activity ( J:122993 )

• reduction in motor and exploratory activity

nervous system

neuronal intranuclear inclusions ( J:122993 )

• numerous neuronal intranuclear inclusion bodies positive for ataxin-3 and ubiquitin are seen in all brain regions

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Machado-Joseph disease		DOID:1440	OMIM:109150	J:122993