Phenotypes Associated with This Genotype

Genotype
MGI:6474170

• Allelic Composition: Cln3^em1Dprc/Cln3^em1Dprc
• Genetic Background: C57BL/6-Cln3^em1Dprc

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

growth/size/body

decreased body weight ( J:294634 )

• males weigh less at 3, 6, and 18 months of age while females weight less only at 6 months of age

behavior/neurological

impaired coordination ( J:294634 )

• in a modified vertical descent test, males show difficulties in climbing down and turning down the pole from 3 months of age; females show inconsistent deficits in this test

• however, mice show normal performance on an accelerated rotarod test and in some instances perform better than wild-type mice

• however, mice show no differences when assessed for anxiety and preference for dark areas

cellular

abnormal lysosome morphology ( J:294634 )

• mitochondrial ATP synthase subunit C accumulation is present in the somatosensory barrel field cortex and the ventral posteromedial/ventral posterolateral nuclei of the thalamus at 6 months of age and is evident throughout the brain at 21 months of age, indicating accumulation of lysosomal storage material

hematopoietic system

increased microglial cell activation ( J:294634 )

• microglial activation is elevated at 21 months of age in the ventral posteromedial/ventral posterolateral nuclei of the thalamus in males and females and in the somatosensory barrel field cortex of males only

• however, microglial activation is not seen at 6 months of age

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:294634 )

• palmitoyl protein transferase 1 (PPT1) enzyme activity in the liver is decreased

• tripeptidyl peptidase 1 (TPP1) enzyme activity in the thalamus and cerebellum is increased

immune system

increased microglial cell activation ( J:294634 )

• microglial activation is elevated at 21 months of age in the ventral posteromedial/ventral posterolateral nuclei of the thalamus in males and females and in the somatosensory barrel field cortex of males only

• however, microglial activation is not seen at 6 months of age

nervous system

increased microglial cell activation ( J:294634 )

• microglial activation is elevated at 21 months of age in the ventral posteromedial/ventral posterolateral nuclei of the thalamus in males and females and in the somatosensory barrel field cortex of males only

• however, microglial activation is not seen at 6 months of age

abnormal astrocyte morphology ( J:294634 )

• astrocytes appear more hypertrophic and ramified

astrocytosis ( J:294634 )

• astrocytosis is prominent at 6 months of age, with females showing increased levels in the somatosensory barrel field cortex

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 3		DOID:0110731	OMIM:204200	J:294634