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Phenotypes Associated with This Genotype
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln5tm1Pltn mutation (0 available); any Cln5 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• progressive impairment in the forelimb extension test beginning around the age of 13 weeks and severe loss of vision at the average age of 21 weeks

nervous system
• accumulation of autofluorescent storage material throughout the brain at 6 months of age, including in the cortical mantle of the cerebral cortex, cortical neurons, the CA2 region of the hippocampus and the retina
• presence of inclusion bodies in neurons of the cerebral cortex and thalamus region, that contained a mixture of lamellar bodies
• 6 month old mutants showed a loss of GABAergic interneurons in the deeper cortical layers of the cerebral cortex, the entorhinal cortex, hippocampus, thalamic nuclei, midbrain, and in the Purkinje cell layer of the cerebellum

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 5 DOID:0110728 OMIM:256731

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
MGI 6.11
The Jackson Laboratory