Phenotypes Associated with This Genotype

Genotype
MGI:2175783

• Allelic Composition: Cln3^tm1Nbm/Cln3^tm1Nbm
• Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

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

nervous system

abnormal brain morphology ( J:58230 )

• marked accumulation of storage material

abnormal brainstem morphology ( J:58230 )

• accumulation of storage material in neuronal cell bodies and glial cells of the reticular formation

abnormal basal ganglion morphology ( J:58230 )

• marked accumulation of storage material in neuronal cell bodies and glial cells

abnormal hippocampus morphology ( J:58230 )

• accumulation of storage material in neuronal cell bodies and glial cells, particularly in interneurons of the hilar formation, stratum oriens, stratum radiatum, and CA1-3

• hypertrophy and reduced numbers of most interneurons

abnormal cerebral cortex morphology ( J:58230 )

• marked accumulation of storage material in neuronal cell bodies and glial cells

• reduced numbers of parvalbumin positive interneurons

cellular

abnormal lysosome morphology ( J:58230 )

• marked accumulation of storage material in neuronal cell bodies in the brain

• first detectable at 3 months of age and increasing to 12 months

• widely distributed throughout the cytoplasm but not the nucleus

• contain mitochondrial ATP synthase subunit c

• found in both neuronal and glial cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 3		DOID:0110731	OMIM:204200	J:58230