Phenotypes Associated with This Genotype

Genotype
MGI:5516463

• Allelic Composition: Tg(Prnp-ATXN3*148Q)NLS.28Olri/0
• Genetic Background: involves: C57BL/6N

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

behavior/neurological

abnormal behavior ( J:122993 )

• mutants develop the same behavioral defects seen in Tg(Prnp-ATXN3*148Q)148.19Orli mice but even earlier and more severe

mortality/aging

premature death ( J:122993 )

nervous system

abnormal Purkinje cell morphology ( J:122993 )

• Purkinje cells appear slightly shrunken and nuclei slightly indented

• some Purkinje cells have swollen dendrites within the molecular layer

neuronal intranuclear inclusions ( J:122993 )

• very high number of intranuclear inclusion bodies in almost every brain area

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