About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3044770
Allelic
Composition
Cln3tm1.1Mem/Cln3tm1.1Mem
Genetic
Background
involves: 129S/SvEv * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln3tm1.1Mem mutation (2 available); any Cln3 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes show reduced (80%) survival, with the earliest death occurring at 7 months of age (J:79615)
• homozygotes show reduced (80%) survival, with the earliest death occurring at 7 months of age (J:79615)

behavior/neurological
N
• no handling-induced seizures are observed (J:79615)
• no handling-induced seizures are observed (J:79615)
• at 10-12 months, tail hang/clasping assays revealed clasping in 42% of homozygous mutant mice, compared with 10% of wild-type or heterozygous mutant mice (J:79615)
• at 10-12 months, tail hang/clasping assays revealed clasping in 42% of homozygous mutant mice, compared with 10% of wild-type or heterozygous mutant mice (J:79615)
• at 10-12 months, gait analyses indicated shortened average stride length (rear paw) and increased base width (rear paw stance) (J:79615)
• at 10-12 months, gait analyses indicated shortened average stride length (rear paw) and increased base width (rear paw stance) (J:79615)
• at 10 -12 months of age (J:79615)
• at 10 -12 months of age (J:79615)

liver/biliary system
• in liver, ATP synthase subunit c-reactive deposition is observed as early as E19.5 (J:79615)
• at 10 months, mutant hepatocytes contain abundant autofluorescent, ATP synthase subunit c-reactive membrane deposits (J:79615)
• in liver, ATP synthase subunit c-reactive deposition is observed as early as E19.5 (J:79615)
• at 10 months, mutant hepatocytes contain abundant autofluorescent, ATP synthase subunit c-reactive membrane deposits (J:79615)

vision/eye
• retinal neurons contain membrane deposits in the RGC layer and the inner nuclear layer (INL), with small punctate granules in the outer nuclear layer (ONL) (J:79615)
• retinal deposits are first observed at P1.5, within the neuroblastic layer (J:79615)
• punctate subunit c-reactive granules are noted within the ONL and INL in the mature retina at P8 and P30 (J:79615)
• retinal neurons contain membrane deposits in the RGC layer and the inner nuclear layer (INL), with small punctate granules in the outer nuclear layer (ONL) (J:79615)
• retinal deposits are first observed at P1.5, within the neuroblastic layer (J:79615)
• punctate subunit c-reactive granules are noted within the ONL and INL in the mature retina at P8 and P30 (J:79615)
• at 10-17 months, retinas of hypopigmented homozygotes show a 37% reduction in the number of cone cells per field relative to retinas of hypopigmented heterozygotes (J:79615)
• at 10-17 months, retinas of hypopigmented homozygotes show a 37% reduction in the number of cone cells per field relative to retinas of hypopigmented heterozygotes (J:79615)
• retinal ganglion cells show electron-dense membranous perinuclear inclusions with a JNCL-like 'fingerprint' profile (J:79615)
• retinal ganglion cells show electron-dense membranous perinuclear inclusions with a JNCL-like 'fingerprint' profile (J:79615)
• retinas from pigmented homozygotes do not exhibit a cone cell loss at 10-17 months, suggesting that hypopigmentation may accelerate retinal degeneration (J:79615)
• retinas from pigmented homozygotes do not exhibit a cone cell loss at 10-17 months, suggesting that hypopigmentation may accelerate retinal degeneration (J:79615)

nervous system
• at 10 months, homozygotes display membranous deposits in the CNS (J:79615)
• autofluorescent, ATP synthase subunit c-reactive membrane deposits are observed in the cytoplasm of CA2 and CA3 pyramidal cells of the hippocampus, Purkinje cells of the cerebellum, as well as cortical neurons and thalamic neurons (J:79615)
• at 10 months, homozygotes display membranous deposits in the CNS (J:79615)
• autofluorescent, ATP synthase subunit c-reactive membrane deposits are observed in the cytoplasm of CA2 and CA3 pyramidal cells of the hippocampus, Purkinje cells of the cerebellum, as well as cortical neurons and thalamic neurons (J:79615)
• accumulates are first noted at E19.5 in neurons of the dentate gyrus and in the subventricular zone at the lateral ventricle (J:79615)
• in these regions, ATP synthase subunit c-reactive deposits are undetectable after P8 (J:79615)
• accumulates are first noted at E19.5 in neurons of the dentate gyrus and in the subventricular zone at the lateral ventricle (J:79615)
• in these regions, ATP synthase subunit c-reactive deposits are undetectable after P8 (J:79615)
• ultrastructurally, CA2/3 hippocampal pyramidal neurons show abundant perinuclear, osmiophilic and electron-dense inclusions (J:79615)
• such subunit-c inclusions have multilamellar membranes, a JNCL-like 'fingerprint' appearance, and are first detected at P8, increasing in size and intensity by P30 (J:79615)
• ultrastructurally, CA2/3 hippocampal pyramidal neurons show abundant perinuclear, osmiophilic and electron-dense inclusions (J:79615)
• such subunit-c inclusions have multilamellar membranes, a JNCL-like 'fingerprint' appearance, and are first detected at P8, increasing in size and intensity by P30 (J:79615)
• cerebellar deposits are detected in the Purkinje cell layer at E19.5, increasing in severity by P30 (J:79615)
• cerebellar deposits are detected in the Purkinje cell layer at E19.5, increasing in severity by P30 (J:79615)
• accumulates are first noted at E19.5 in neurons of the dentate gyrus and in the subventricular zone at the lateral ventricle (J:79615)
• in these regions, ATP synthase subunit c-reactive deposits are undetectable after P8 (J:79615)
• accumulates are first noted at E19.5 in neurons of the dentate gyrus and in the subventricular zone at the lateral ventricle (J:79615)
• in these regions, ATP synthase subunit c-reactive deposits are undetectable after P8 (J:79615)
• at 10 months, all homozygotes exhibit reactive gliosis in the motor cortex, white matter tracts of the cerebellum and midbrain, including the inferior colliculus (J:79615)
• no apoptotic changes are observed in these regions (J:79615)
• at 10 months, all homozygotes exhibit reactive gliosis in the motor cortex, white matter tracts of the cerebellum and midbrain, including the inferior colliculus (J:79615)
• no apoptotic changes are observed in these regions (J:79615)
• at 10-17 months, retinas of hypopigmented homozygotes show a 37% reduction in the number of cone cells per field relative to retinas of hypopigmented heterozygotes (J:79615)
• at 10-17 months, retinas of hypopigmented homozygotes show a 37% reduction in the number of cone cells per field relative to retinas of hypopigmented heterozygotes (J:79615)
• retinal ganglion cells show electron-dense membranous perinuclear inclusions with a JNCL-like 'fingerprint' profile (J:79615)
• retinal ganglion cells show electron-dense membranous perinuclear inclusions with a JNCL-like 'fingerprint' profile (J:79615)

Mouse Models of Human Disease
OMIM ID Ref(s)
Ceroid Lipofuscinosis, Neuronal, 3; CLN3 204200 J:79615


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/02/2016
MGI 6.02
The Jackson Laboratory