Phenotypes Associated with This Genotype

Genotype
MGI:3527906

• Allelic Composition: Ppt1^tm1Aj/Ppt1^tm1Aj
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

premature death ( J:95522 )

• average age of death was 6.5 months

behavior/neurological

limb grasping ( J:95522 )

• show a clasping phenotype starting at 4 months of age

hindlimb paralysis ( J:95522 )

• hindlimb paralysis at the average age of 5.2 months

seizures ( J:95522 )

• homozygotes developed seizures at the average age of 4.2 months

myoclonus ( J:95522 )

• myoclonic jerks became obvious at 6 months of age

hematopoietic system

abnormal spleen morphology ( J:95522 )

• abundant GROD deposits in lymphatic cells of the spleen

immune system

abnormal spleen morphology ( J:95522 )

• abundant GROD deposits in lymphatic cells of the spleen

brain inflammation ( J:95522 )

• inflammation was evident at 3 months of age in the cortex of homozygotes

liver/biliary system

abnormal liver morphology ( J:95522 )

• the liver, especially Kupfer cells, had abundant autofluorescent granular osmiophilic deposits (GRODs)

muscle

myoclonus ( J:95522 )

• myoclonic jerks became obvious at 6 months of age

renal/urinary system

abnormal kidney morphology ( J:95522 )

• GRODs were most abundant in podocytes but also present in endothelial cells of the liver

abnormal podocyte morphology ( J:95522 )

• abundant GRODs in podocytes

vision/eye

abnormal retina neuronal layer morphology ( J:95522 )

• extensive accumulation of autofluorescent material in the retina of 6 month old homozygotes, mainly in the ganglionic cell layer, inner nuclear layer, and in the margins of the inner plexiform layer, outer plexiform layer, the outer nuclear layer and the inner segment

blindness ( J:95522 )

• from the age of 8 weeks, homozygotes showed gradual loss of vision and became blind by the age of 14 weeks

nervous system

seizures ( J:95522 )

• homozygotes developed seizures at the average age of 4.2 months

myoclonus ( J:95522 )

• myoclonic jerks became obvious at 6 months of age

brain inflammation ( J:95522 )

• inflammation was evident at 3 months of age in the cortex of homozygotes

abnormal brain morphology ( J:95522 )

• homozygous brains were atrophic and had an extensive accumulation of autofluorescent material throughout the brain

decreased brain weight ( J:95522 )

• brain mass was reduced, with close to 50% loss of weight

abnormal hippocampus morphology ( J:95522 )

• extensive accumulation of autofluorescent material in the principal and nonprincipal cell layers, being most intensive in the pyramidal cell layer of the Ammon's horn

abnormal cerebral cortex morphology ( J:95522 )

• neurons of the cerebral cortex had abundant autofluorescent granular osmiophilic deposits (GRODs)

loss of cortex neurons ( J:95522 )

• neuronal loss was most obvious in the cerebral areas, with the cerebellum relatively normal

brain atrophy ( J:95522 )

loss of GABAergic neurons ( J:95522 )

• decreased numbers of GABAergic interneurons in the cerebral cortex, thalamic nuclei and the cerebellum in 6 month old homozygotes

neurodegeneration ( J:95522 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 1		DOID:0110721	OMIM:256730	J:95522