Mouse Genome Informatics
hm
    Cln3tm1Nbm/Cln3tm1Nbm
involves: 129S6/SvEvTac * NIH Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• marked accumulation of storage material
• accumulation of storage material in neuronal cell bodies and glial cells of the reticular formation
• marked accumulation of storage material in neuronal cell bodies and glial cells
• 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
• marked accumulation of storage material in neuronal cell bodies and glial cells
• reduced numbers of parvalbumin positive interneurons

cellular
• contain mitochondrial ATP synthase subunit c
• first detectable at 3 months of age and increasing to 12 months
• widely distributed throughout the cytoplasm but not the nucleus
• marked accumulation of storage material in neuronal cell bodies in the brain
• found in both neuronal and glial cells

Mouse Models of Human Disease
OMIM IDRef(s)
Ceroid Lipofuscinosis, Neuronal, 3; CLN3 204200 J:58230