Phenotypes associated with this allele

• Allele Symbol: Cln6^nclf
• Allele Name: neuronal ceroid lipofuscinosis
• Allele ID: MGI:2159328
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cln6^nclf/Cln6^nclf	B6.Cg-Cln6^nclf/J	MGI:5604252
hm2	Cln6^nclf/Cln6^nclf	involves: C57BL/6J * C57BL/10J * C3HeB/FeJLe	MGI:2182596

Genotype
MGI:5604252

hm1

• Allelic Composition: Cln6^nclf/Cln6^nclf
• Genetic Background: B6.Cg-Cln6^nclf/J

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

nervous system

abnormal nervous system morphology ( J:211608 )

• lysosomal accumulation of subunit c of mitochondrial ATP synthase throughout the entire CNS

• most intense subunit c of mitochondrial ATP synthase accumulation is seen in the cerebellum and certain nuclei of the medulla, entire hippocampus, all cerebral neurons

Genotype
MGI:2182596

hm2

• Allelic Composition: Cln6^nclf/Cln6^nclf
• Genetic Background: involves: C57BL/6J * C57BL/10J * C3HeB/FeJLe

mortality/aging

premature death ( J:47292 )

behavior/neurological

paralysis ( J:47292 )

• paresis progresses to paralysis typically by 9 months of age

• paralysis is spastic in nature

hindlimb paresis ( J:47292 )

• develop rear limb paresis by 8 months of age

• paresis is spastic in nature

seizures ( J:47292 )

• terminal seizures have been seen

nervous system

seizures ( J:47292 )

• terminal seizures have been seen

astrocytosis ( J:47292 )

• by 6 months of age increasing numbers of hypertrophic astrocytes are seen in the cerebral cortex, thalamus and brain stem indicative of reactive gliosis

axon degeneration ( J:47292 )

• many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord

• lesions in the spinal cord are consistent with Wallerian degeneration

• however, no necrotic or apoptotic nuclei are detected in the central nervous system

abnormal myelination ( J:47292 )

• many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord

• lesions in the spinal cord are consistent with Wallerian degeneration

abnormal neuron physiology ( J:47292 )

• at 11 days of age, accumulation of luxol fast blue staining material is seen in inclusions in neurons in all parts of the brain and spinal cord

• amount of inclusion material increases with age

vision/eye

increased susceptibility to age-related retinal degeneration ( J:47292 )

• begins around 4 months of age

• by 5 - 6 months of age, the outer nuclear layer is reduced to 5-6 cell layers compared to 11 in controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 6A		DOID:0110729	OMIM:601780	J:73923