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Phenotypes Associated with This Genotype
Genotype
MGI:3522019
Allelic
Composition
Cln5tm1Pltn/Cln5tm1Pltn
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cln5tm1Pltn mutation (0 available); any Cln5 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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 (J:94383)
• 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 (J:94383)

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 (J:94383)
• presence of inclusion bodies in neurons of the cerebral cortex and thalamus region, that contained a mixture of lamellar bodies (J:94383)
• 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 (J:94383)
• presence of inclusion bodies in neurons of the cerebral cortex and thalamus region, that contained a mixture of lamellar bodies (J:94383)
• 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 (J:94383)
• 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 (J:94383)

Mouse Models of Human Disease
OMIM ID Ref(s)
Ceroid Lipofuscinosis, Neuronal, 5; CLN5 256731 J:94383


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory