Phenotypes Associated with This Genotype

Genotype
MGI:3522019

• Allelic Composition: Cln5^tm1Pltn/Cln5^tm1Pltn
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

vision/eye

abnormal vision ( 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

nervous system

abnormal brain morphology ( 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

• presence of inclusion bodies in neurons of the cerebral cortex and thalamus region, that contained a mixture of lamellar bodies

loss of GABAergic neurons ( 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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 5		DOID:0110728	OMIM:256731	J:94383