Mouse Genome Informatics
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    Cisd2tm1Tfts/Cisd2tm1Tfts
B6.129S7-Cisd2tm1Tfts
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• median life span is 67 weeks compared with 109 weeks for wild-type mice
• starting at 8 weeks of age, mice exhibit signs of premature aging including prominent eyes and ears, cataracts, blindness, early depigmentation of fur, decreased hair density, thickened epidermis, decreased subcutaneous adipose, thin femur trabecular, reduced respiratory parameters, and muscle degeneration
• however, mouse embryonic fibroblasts exhibit normal proliferation and the apoptosis rates of brain, skeletal muscle, and cardiac muscle cells are normal

skeleton
• by 12 weeks, mice exhibit lordokyphosis
• by 12 weeks, mice exhibit lordokyphosis
• after 8 weeks and progressively more severe at 24 weeks in the femur

growth/size
• 50% reduction at 52 wk, 80% reduction at 80 wk
• at 8 weeks, mice exhibit prominent ears compared with wild-type mice
• after 12 weeks
• after 12 weeks, mice exhibit a decrease in thoracic volume compared with wild-type mice
• 13% reduction at 4 wk, 27% reduction at 8 wk, 41% reduction at 36 wk
• mice exhibit almost no growth after 5 weeks

nervous system
• mice exhibit progressive neurodegeneration which includes optic nerve defects
• mice exhibit progressive neurodegeneration which includes optic nerve defects
• at 2 weeks
• myelin sheath disintegrate at 2 weeks

homeostasis/metabolism
• stimulated skeletal muscle mitochondria exhibit reduced oxygen consumption and respiratory control ratio compared with wild-type mitochondria
• mice exhibit impaired glucose homeostasis due to abnormal insulin secretion rather than insulin resistance

respiratory system
• after 12 weeks of age, mice exhibit reduced respiratory parameters compared to with wild-type mice

vision/eye
• mice exhibit progressive neurodegeneration which includes optic nerve defects
• at 20 weeks, mice exhibit opacity of the cornea without cataracts formation
• at 8 weeks, mice exhibit prominent eyes compared with wild-type mice
• at 20 weeks

muscle
• mice exhibit angular fibers unlike in wild-type mice
• at 3 weeks, mice exhibit progressive muscle degeneration unlike wild-type mice

adipose tissue
• 50% reduction at 52 wk, 80% reduction at 80 wk

behavior/neurological
• at 12 to 14 weeks
• at 12 to 14 weeks

cardiovascular system

cellular
• at 2 weeks, mice exhibit mitochondrial degeneration in axons of the sciatic nerve, brain cells, cardiac muscle cells, and skeletal muscle cells unlike wild-type mice
• mitochondria exhibit a 30% reduction in electron transport activities of complexes I-III, II-III, and IV compared with wild-type mitochondria
• however, the production of reactive oxygen species is normal

digestive/alimentary system
• at 12 to 14 weeks, mice exhibit decreased stool production compared with wild-type mice

endocrine/exocrine glands

hearing/vestibular/ear
• at 8 weeks, mice exhibit prominent ears compared with wild-type mice

pigmentation
• at 48 weeks, mice exhibit premature fur depigmentation

renal/urinary system
• at 12 to 14 weeks

craniofacial
• at 8 weeks, mice exhibit prominent ears compared with wild-type mice

integument
• at 48 weeks, mice exhibit premature fur depigmentation
• at 48 weeks, mice exhibit hair follicle atrophy, decrease hair density, and decreased hair regrowth rate compared with wild-type mice
• at 48 weeks, the epidermis is thickened and the surface is expanded with atrophy unlike in wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Wolfram Syndrome 2; WFS2 604928 J:148467