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Phenotypes Associated with This Genotype
Genotype
MGI:2175783
Allelic
Composition
Cln3tm1Nbm/Cln3tm1Nbm
Genetic
Background
involves: 129S6/SvEvTac * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln3tm1Nbm mutation (2 available); any Cln3 mutation (15 available)
phenotype observed in females
phenotype observed in males
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
• 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
OMIM ID Ref(s)
Ceroid Lipofuscinosis, Neuronal, 3; CLN3 204200 J:58230


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
05/17/2016
MGI 6.03
The Jackson Laboratory