Mouse Genome Informatics
hm
    Ppt1tm1Hof/Ppt1tm1Hof
involves: 129S6/SvEvTac * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Neuronal loss is Ppt1tm1Hof/Ppt1tm1Hof mice

mortality/aging
• death by 10 months of age

behavior/neurological
• bite wounds in colony evident
• beginning at 4 to 5 months of age
• lowering of pelvis, splayed hind limbs, hunched posture, side-to-side wobbling, evident beginning at 4 - 5 months of age and progressing to hind limb paralysis
• end point of abnormal gait
• evident beginning at 3 to 4 months of age

craniofacial

muscle
• evident beginning at 3 to 4 months of age

skeleton

nervous system
• evident beginning at 3 to 4 months of age
• autofluorescent deposits, granular osmiophilic deposits, found in cells throughout brain
• storage at 5 months of age found in cerebral cortex, cerebellar Purkinje and granular layers, hippocampus, thalamus and hypothalamus, dentate nucleus, pons, and some areas of the medulla
• cerebral cortex neurodegeneration

Mouse Models of Human Disease
OMIM IDRef(s)
Ceroid Lipofuscinosis, Neuronal, 3; CLN3 204200 J:72931