Phenotypes Associated with This Genotype

Genotype
MGI:2388398

• Allelic Composition: Cln8^mnd/Cln8^mnd
• Genetic Background: B6.KB2/Rn-Cln8^mnd

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

mortality/aging

premature death ( J:8492 , J:56219 )

• Background Sensitivity: most die by 9-14 months of age (J:8492)

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:8492 )

• hindlimbs are unable to grasp the bars of wire cagetop when attempting to walk over it

limb grasping ( J:8492 )

abnormal locomotor behavior ( J:8492 )

• unable to walk uphill

• dragging or splaying of the hindlimbs while walking

ataxia ( J:8492 )

• age of onset is approximately 5- 11 months of age, progressive with age

paralysis ( J:12816 )

• progress to severe spastic paresis and paralysis by 9 months of age

hindlimb paralysis ( J:8492 )

• age of onset is approximately 5- 11 months of age, progressive with age

paresis ( J:12816 )

• begin to develop paresis by 6 months of age

nervous system

abnormal nervous system morphology ( J:12816 )

• contain LFB-positive intracytoplasmic inclusion material in most neurons in virtually all parts of the brain and spinal cord unlike in controls

abnormal motor neuron morphology ( J:8492 , J:56219 )

• inclusion bodies containing ubiquitin were found in spinal neurons of mnd mice, even prior to onset of symptoms (J:8492)

• motor neurons have eccentric or indiscrete nuclei, disrupted membranes and shape changes (J:8492)

• Background Sensitivity: exhibit motor neuron disease symptoms at around 6 months of age (J:56219)

motor neuron degeneration ( J:8492 )

• degeneration of the upper and lower motor neurons of the spinal cord and cranial nerves and of some areas of the brain

abnormal cranial nerve morphology ( J:8492 )

• degeneration of cranial nerves

abnormal hypoglossal nerve morphology ( J:8492 )

• degenerating

abnormal vagus nerve morphology ( J:8492 )

• degenerating dorsal motor vagus

abnormal spinal cord ventral horn morphology ( J:8492 )

• degeneration of anterior horn cells in the spinal cord

reproductive system

decreased litter size ( J:8492 )

• lower number of progeny/litter and lower numbers of total litters

vision/eye

abnormal retina photoreceptor layer morphology ( J:12816 )

• atrophy of the photoreceptor layer in mice older than 3 months and nearly complete loss of this layer by 8 months of age

blindness ( J:12816 )

• begin to become blind by 2 months of age and by 5 months, are completely blind

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 8		DOID:0110723	OMIM:600143	J:12816 , J:56219