Mouse Genome Informatics
hm
    Prnptm2Lnq/Prnptm2Lnq
involves: 129P2/OlaHsd * C57BL/6N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• signs of programmed cell death are seen in the thalamus
• markers of proliferating neurons are detected in the thalamus and superior colliculus
• mice develop profound neuropathology
• at 16 and 20 months, brain ventricles are enlarged compared to in wild-type mice (J:154937)
• dilated ventricles (J:200974)
• at 16 months, mice exhibit vacuolization and reactive gliosis in the deep white matter unlike in wild-type mice
• at 16 months, mice exhibit abnormal thalamus morphology (J:154937)
• at 18 months, mice exhibit neuronal loss in the thalamus unlike in wild-type mice (J:154937)
• numerous fibrillar deposits are seen that appear to be composed of prion protein (J:200974)
• at 16 months, the motor cortex is flattened or concave unlike in wild-type mice
• at 16 months, mice exhibit cerebellum atrophy unlike wild-type mice
• in the deep white matter at 16 months
• in the deep white matter at 16 months
• mice have fewer thalamic neurons compared with wild-type mice
• at 18 months mice exhibit loss of neurons in the thalamus unlike wild-type mice (J:154937)
• many disintegrating neurons are detected in the thalamus (J:200974)

behavior/neurological
• performance on a rotarod improves in repeated trials but is slightly worse than controls
• in an automated mouse behavioral analysis assay, "cuddled hang" (time spent hanging from the ceiling) is strongly reduced
• at night in mice 12 to 16 months old
• during the night, mice 12 to 16 months old spend less time traveling, travel less distance, and exhibit less jumping, hanging from cage tops, and rearing compared with wild-type mice
• at early as 5 months of age, mice exhibit higher scores of awaken (activity that ends rest periods) and twitch (activity that disrupts rest periods) compared with wild-type mice (J:154937)
• by 16 months, mice exhibit periods of lying on the floor inactive during the night phase indicating exhaustion (J:154937)
• spend more time at "rest" (correlate of sleep) in an automated mouse behavioral analysis assay (J:200974)

immune system
N
• mice are normally sensitive to hamster scrapie infection (J:154937)

homeostasis/metabolism
• mice exhibit a wider range in core body temperature than wild-type mice

cellular
• signs of programmed cell death are seen in the thalamus
• markers of proliferating neurons are detected in the thalamus and superior colliculus

Mouse Models of Human Disease
OMIM IDRef(s)
Fatal Familial Insomnia; FFI 600072 J:154937 , J:200974