Phenotypes Associated with This Genotype

Genotype
MGI:3848973

• Allelic Composition: Tg(Prnp-FTL*)4Ruvi/0
• Genetic Background: B6.C3Fe-Tg(Prnp-FTL*)4Ruvi

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

mortality/aging

decreased survivor rate ( J:131053 )

• survival rate is decreased by 15%

premature death ( J:131053 )

• median survival is 640 days

nervous system

Purkinje cell degeneration ( J:131053 )

abnormal cerebellar granule cell morphology ( J:131053 )

• mice exhibit granule cell degeneration

neuronal intranuclear inclusions ( J:131053 )

• mice exhibit an age-dependent increase in the size of ferritin nuclear inclusions and the number of cells with nuclear inclusions compared to in wild-type mice

• ferritin inclusion bodies are found in neurons of the striatum, cerebellum, olfactory bulb, Purkinje cells, granule cells, gray matter of the spinal cord, and choroid plexus unlike in wild-type mice

homeostasis/metabolism

abnormal iron homeostasis ( J:131053 )

• ferritin inclusions are observed in neural tissues; cardiac cells; striated muscle of the tongue; mucosa, muscularis mucosae, submucosa and muscularis external layers of the gastrointestinal tract; hepatocytes of the liver; adrenal glands and adjacent adipose tissue; cuboidal cells of the convolute tubules of the kidneys; connective tissue of the urinary bladder; ureters; cuboidal cells of the excretory ducts and fibroblasts of the reticular layer of the skin; mononuclear cells of lymphoid nodules and endothelial cells of blood vessels of the spleen; striated and smooth muscle tissues; epithelium of uterine glands in females; seminiferous tubes of the testis, intratesticular genitals ducts and epididymidis in males; and alveolar epithelial cells and smooth muscle cells of the lungs