All Phenotypes Cln3<tm1Nbm> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cln3^tm1Nbm/Cln3^tm1Nbm	129S6/SvEvTac-Cln3^tm1Nbm	MGI:3715473
hm2	Cln3^tm1Nbm/Cln3^tm1Nbm	involves: 129S6/SvEvTac * C57BL/6J	MGI:5788563
hm3	Cln3^tm1Nbm/Cln3^tm1Nbm	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:2175783

Allelic Composition	Cln3^tm1Nbm/Cln3^tm1Nbm
Genetic Background	129S6/SvEvTac-Cln3^tm1Nbm

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln3^tm1Nbm mutation (3 available); any Cln3 mutation (38 available)

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

vision/eye

abnormal retina morphology ( J:109790 )

• first evidence of storage material at about 10 weeks of age

abnormal retina ganglion layer morphology ( J:109790 )

• early site for accumulation of storage material

abnormal retina inner nuclear layer morphology ( J:109790 )

• early site for accumulation of storage material

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 3		DOID:0110731	OMIM:204200	J:109790

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

immune system

abnormal macrophage physiology ( J:233445 )

• mutant bone marrow macrophages exhibit increased adhesiveness to CD11c ligands in vitro

decreased macrophage cytokine production ( J:233445 )

• bone marrow macrophages stimulated with LPS exhibit decreased secretion of IFN-gamma, IL-1beta, IL-17, IL-12p70 and IL-9

abnormal professional antigen presenting cell morphology ( J:233445 )

• 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

abnormal dendritic cell physiology ( J:233445 )

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

hematopoietic system

abnormal macrophage physiology ( J:233445 )

• mutant bone marrow macrophages exhibit increased adhesiveness to CD11c ligands in vitro

decreased macrophage cytokine production ( J:233445 )

• bone marrow macrophages stimulated with LPS exhibit decreased secretion of IFN-gamma, IL-1beta, IL-17, IL-12p70 and IL-9

cellular

abnormal cell adhesion ( J:233445 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 3		DOID:0110731	OMIM:204200	J:233445

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln3^tm1Nbm mutation (3 available); any Cln3 mutation (38 available)

♀	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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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