About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2176410
Allelic
Composition
Ppt1tm1Hof/Ppt1tm1Hof
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppt1tm1Hof mutation (2 available); any Ppt1 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Neuronal loss is Ppt1tm1Hof/Ppt1tm1Hof mice

mortality/aging
• death by 10 months of age (J:72931)
• death by 10 months of age (J:72931)

behavior/neurological
• bite wounds in colony evident (J:72931)
• bite wounds in colony evident (J:72931)
• beginning at 4 to 5 months of age (J:72931)
• beginning at 4 to 5 months of age (J:72931)
• 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 (J:72931)
• 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 (J:72931)
• end point of abnormal gait (J:72931)
• end point of abnormal gait (J:72931)
• evident beginning at 3 to 4 months of age (J:72931)
• evident beginning at 3 to 4 months of age (J:72931)

craniofacial
• thickened (J:72931)
• thickened (J:72931)

muscle
• evident beginning at 3 to 4 months of age (J:72931)
• evident beginning at 3 to 4 months of age (J:72931)

skeleton
• thickened (J:72931)
• thickened (J:72931)

nervous system
• evident beginning at 3 to 4 months of age (J:72931)
• evident beginning at 3 to 4 months of age (J:72931)
• autofluorescent deposits, granular osmiophilic deposits, found in cells throughout brain (J:72931)
• 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 (J:72931)
• autofluorescent deposits, granular osmiophilic deposits, found in cells throughout brain (J:72931)
• 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 (J:72931)
• cerebral cortex neurodegeneration (J:72931)
• cerebral cortex neurodegeneration (J:72931)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory