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Phenotypes Associated with This Genotype
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phenotype observed in females
phenotype observed in males
N normal phenotype
• survival rate is decreased by 36%
• survival rate is decreased by 36%

• 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

• 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

• 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

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MGI 6.12
The Jackson Laboratory