Phenotypes Associated with This Genotype

Genotype
MGI:3848974

• Allelic Composition: Tg(Prnp-FTL*)4Ruvi/Tg(Prnp-FTL*)4Ruvi
• 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 36%

premature death ( J:131053 )

• survival rate is decreased by 36%

behavior/neurological

abnormal grooming behavior ( J:131053 )

limb grasping ( J:131053 )

tremors ( J:131053 )

impaired coordination ( J:131053 )

• at 4 months, mice exhibit decreased latency to fall on a rotarod compared with wild-type mice

hunched posture ( J:131053 )

• towards the end of their lives

abnormal gait ( J:131053 )

• late in life mice exhibit a shuffle gait with dragging hindlimbs

nervous system

abnormal Purkinje cell morphology ( J:131053 )

• ferritin nuclear inclusions are observed in Purkinje cells and granule cell layer neurons unlike in wild-type mice

abnormal cerebellar granule layer morphology ( J:131053 )

• ferritin nuclear inclusions are observed in Purkinje cells and granule cell layer neurons unlike in wild-type mice

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

• 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

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

skeleton

lordosis ( J:131053 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neurodegeneration with brain iron accumulation 3		DOID:0110737	OMIM:606159	J:131053