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Phenotypes Associated with This Genotype
Genotype
MGI:3527906
Allelic
Composition
Ppt1tm1Aj/Ppt1tm1Aj
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppt1tm1Aj mutation (0 available); any Ppt1 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average age of death was 6.5 months

behavior/neurological
• show a clasping phenotype starting at 4 months of age
• hindlimb paralysis at the average age of 5.2 months
• homozygotes developed seizures at the average age of 4.2 months
• myoclonic jerks became obvious at 6 months of age

hematopoietic system
• abundant GROD deposits in lymphatic cells of the spleen

immune system
• abundant GROD deposits in lymphatic cells of the spleen
• inflammation was evident at 3 months of age in the cortex of homozygotes

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

muscle
• myoclonic jerks became obvious at 6 months of age

renal/urinary system
• GRODs were most abundant in podocytes but also present in endothelial cells of the liver
• abundant GRODs in podocytes

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

nervous system
• homozygotes developed seizures at the average age of 4.2 months
• myoclonic jerks became obvious at 6 months of age
• inflammation was evident at 3 months of age in the cortex of homozygotes
• homozygous brains were atrophic and had an extensive accumulation of autofluorescent material throughout the brain
• brain mass was reduced, with close to 50% loss of weight
• 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
• neurons of the cerebral cortex had abundant autofluorescent granular osmiophilic deposits (GRODs)
• neuronal loss was most obvious in the cerebral areas, with the cerebellum relatively normal
• decreased numbers of GABAergic interneurons in the cerebral cortex, thalamic nuclei and the cerebellum in 6 month old homozygotes

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


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
03/19/2019
MGI 6.13
The Jackson Laboratory