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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Cln3tm1Nbm
targeted mutation 1, Robert L Nussbaum
MGI:1933976
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Cln3tm1Nbm/Cln3tm1Nbm 129S6/SvEvTac-Cln3tm1Nbm MGI:3715473
hm2
Cln3tm1Nbm/Cln3tm1Nbm involves: 129S6/SvEvTac * C57BL/6J MGI:5788563
hm3
Cln3tm1Nbm/Cln3tm1Nbm involves: 129S6/SvEvTac * NIH Black Swiss MGI:2175783


Genotype
MGI:3715473
hm1
Allelic
Composition
Cln3tm1Nbm/Cln3tm1Nbm
Genetic
Background
129S6/SvEvTac-Cln3tm1Nbm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln3tm1Nbm mutation (3 available); any Cln3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• first evidence of storage material at about 10 weeks of age
• early site for accumulation of storage material
• early site for accumulation of storage material

Mouse Models of Human Disease
OMIM ID Ref(s)
Ceroid Lipofuscinosis, Neuronal, 3; CLN3 204200 J:109790




Genotype
MGI:5788563
hm2
Allelic
Composition
Cln3tm1Nbm/Cln3tm1Nbm
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln3tm1Nbm mutation (3 available); any Cln3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mutant bone marrow macrophages exhibit increased adhesiveness to CD11c ligands in vitro
• bone marrow macrophages stimulated with LPS exhibit decreased secretion of IFN-gamma, IL-1beta, IL-17, IL-12p70 and IL-9
• increase in surface and total protein levels of CD11c in antigen presenting cells (bone marrow macrophages, bone marrow dendritic cells, and peritoneal macrophages)
• increase in surface levels of CD11c on mononuclear phagocytes (CD14+ monocytes in the blood and F4/80+ macrophages in the spleen)
• decrease in surface levels of CD11b in bone marrow macrophages and dendritic cells and peritoneal macrophages
• mutant bone marrow dendritic cells exhibit increased adhesiveness to CD11c ligands in vitro

hematopoietic system
• mutant bone marrow macrophages exhibit increased adhesiveness to CD11c ligands in vitro
• bone marrow macrophages stimulated with LPS exhibit decreased secretion of IFN-gamma, IL-1beta, IL-17, IL-12p70 and IL-9

cellular
• mutant bone marrow dendritic cells and bone marrow marcrophages exhibit increased adhesiveness to CD11c ligands in vitro

Mouse Models of Human Disease
OMIM ID Ref(s)
Ceroid Lipofuscinosis, Neuronal, 3; CLN3 204200 J:233445




Genotype
MGI:2175783
hm3
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 (3 available); any Cln3 mutation (18 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





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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory