Related Experiment Video
Updated: Aug 29, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
SCA17 homozygote showing Huntington's disease-like phenotype
Yasuko Toyoshima1, Mitsunori Yamada, Osamu Onodera
1Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan. yasuko@bri.niigata-u.ac.jp
Abstract:
We report a homozygous case of spinocerebellar ataxia type 17 with 48 glutamines. The age of the patient at disease onset was not lower than those of heterozygotes with the same CAG-repeat sizes, but the clinical manifestations were rapidly progressive dementia and chorea. Neuronal loss was relatively restricted and most prominent in the Purkinje cell layer and striatum; however, intranuclear neuronal polyglutamine accumulation was widespread, with a high frequency in the cerebral cortex and striatum.
More Related Videos
Related Concept Videos
Huntington Disease l: Introduction
Genetic Lingo
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Pleiotropy
Pedigree Analysis
Sex-linked Disorders

