Phenotypes Associated with This Genotype

Genotype
MGI:2176410

• Allelic Composition: Ppt1^tm1Hof/Ppt1^tm1Hof
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Neuronal loss is Ppt1^tm1Hof/Ppt1^tm1Hof mice

mortality/aging

premature death ( J:72931 )

• death by 10 months of age

nervous system

myoclonus ( J:72931 )

• evident beginning at 3 to 4 months of age

microgliosis ( J:280337 )

• early onset in the retina

abnormal brain morphology ( J:72931 )

• 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

decreased brain size ( J:72931 )

astrocytosis ( J:280337 )

• early onset in the retina

decreased retina photoreceptor cell number ( J:280337 )

• at P240

decreased retina cone cell number ( J:280337 )

• at P112 and P240, but not at P45

abnormal retina cone bipolar cell morphology ( J:280337 )

• reduced number at P112 and P240

abnormal retina rod bipolar cell morphology ( J:280337 )

• reduced number at P240

neurodegeneration ( J:72931 )

• cerebral cortex neurodegeneration

hippocampal neuron degeneration ( J:72931 )

Purkinje cell degeneration ( J:72931 )

retina ganglion cell degeneration ( J:280337 )

• at P240, but not P45 and P112

retina photoreceptor degeneration ( J:280337 )

• at P240

vision/eye

decreased retina photoreceptor cell number ( J:280337 )

• at P240

decreased retina cone cell number ( J:280337 )

• at P112 and P240, but not at P45

abnormal retina cone bipolar cell morphology ( J:280337 )

• reduced number at P112 and P240

abnormal retina rod bipolar cell morphology ( J:280337 )

• reduced number at P240

retina ganglion cell degeneration ( J:280337 )

• at P240, but not P45 and P112

retina photoreceptor degeneration ( J:280337 )

• at P240

thin retina inner nuclear layer ( J:280337 )

• at P240

thin retina outer nuclear layer ( J:280337 )

• at P240

decreased total retina thickness ( J:280337 )

• at P240

retina deposits ( J:280337 )

• accumulation of granular osmiophilic storage material (e.g. saposin D, electron-dense storage material) in subretinal microglia and macrophages

retina gliosis ( J:280337 )

• slightly at P45 and P112, strongly at P240 as measured by mean intensity

• significantly at P112 and P240 as measured by integrated density values

behavior/neurological

abnormal aggression-related behavior ( J:72931 )

• bite wounds in colony evident

decreased grooming behavior ( J:72931 )

• beginning at 4 to 5 months of age

jerky movement ( J:72931 )

abnormal gait ( 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

hindlimb paralysis ( J:72931 )

• end point of abnormal gait

myoclonus ( J:72931 )

• evident beginning at 3 to 4 months of age

muscle

myoclonus ( J:72931 )

• evident beginning at 3 to 4 months of age

skeleton

thick neurocranium ( J:72931 )

• thickened

craniofacial

thick neurocranium ( J:72931 )

• thickened

hematopoietic system

microgliosis ( J:280337 )

• early onset in the retina

immune system

microgliosis ( J:280337 )

• early onset in the retina

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 3		DOID:0110731	OMIM:204200	J:72931