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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 (10 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

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 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
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory