Mouse Genome Informatics
tg1
    Tg(Prnp-FTL*)4Ruvi/Tg(Prnp-FTL*)4Ruvi
B6.C3Fe-Tg(Prnp-FTL*)4Ruvi
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• survival rate is decreased by 36%
• survival rate is decreased by 36%

behavior/neurological
• at 4 months, mice exhibit decreased latency to fall on a rotarod compared with wild-type mice
• towards the end of their lives
• late in life mice exhibit a shuffle gait with dragging hindlimbs

nervous system
• ferritin nuclear inclusions are observed in Purkinje cells and granule cell layer neurons unlike in wild-type mice
• ferritin nuclear inclusions are observed in Purkinje cells and granule cell layer neurons unlike in wild-type mice
• 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
• mice exhibit ferritin inclusions in the substantia nigra, striatum, amygdala, cerebral cortex, and Purkinje cells and granule cells of the cerebellum unlike in wild-type mice

homeostasis/metabolism
• 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

skeleton
• mice exhibit a very low body position with some degree of lordosis unlike wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Neurodegeneration with Brain Iron Accumulation 3; NBIA3 606159 J:131053


Mouse Genome Informatics
tg2
    Tg(Prnp-FTL*)4Ruvi/0
B6.C3Fe-Tg(Prnp-FTL*)4Ruvi
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• survival rate is decreased by 15%
• median survival is 640 days

nervous system
• mice exhibit granule cell degeneration
• 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
• 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