Phenotypes Associated with This Genotype

Genotype
MGI:2388401

• Allelic Composition: Cln8^mnd/Cln8^mnd
• Genetic Background: involves: AKR/J * B6.KB2

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

mortality/aging

premature death ( J:1224 , J:56219 )

• Background Sensitivity: death by 7 months of age, compared to 9-14 months on the inbred B6.KB2 background (J:1224)

vision/eye

abnormal retina pigment epithelium morphology ( J:19328 )

• focal thinning of the retinal pigment epithelium occurs at late stages of degeneration

thin retina outer nuclear layer ( J:19328 )

• at P15, the outer nuclear layer (ONL) contains greater number of pyknotic nuclei and is thinner

• rapid thinning of the ONL by P25, with a more gradual thinning at later ages

abnormal retina photoreceptor layer morphology ( J:19328 )

abnormal retina rod cell inner segment morphology ( J:19328 )

• rapid thinning of the rod inner segment layer by P25, with a more gradual thinning at later stages

short photoreceptor inner segment ( J:19328 )

• at very late stages of degeneration, inner segments are shortened and broadened

short photoreceptor outer segment ( J:19328 )

• progressive shortening of the outer segments while maintaining relatively normal structure

abnormal retina rod cell outer segment morphology ( J:19328 )

• rapid thinning of the rod outer segment layer by P25, with a more gradual thinning at later stages

increased susceptibility to age-related retinal degeneration ( J:19328 )

• detectable at P15 and more pronounced with age

pigmentation

abnormal retina pigment epithelium morphology ( J:19328 )

• focal thinning of the retinal pigment epithelium occurs at late stages of degeneration

nervous system

abnormal nervous system morphology ( J:1224 )

• Background Sensitivity: earlier age of onset (4.5-5 months) and increased speed of progression of neurological disease than on the inbred B6.KB2 background

abnormal motor neuron morphology ( J:56219 )

• Background Sensitivity: motor neuron disease is accelerated with 40% exhibiting symptoms by 4.5 months of age and dying by 6.5-7 months

abnormal retina rod cell inner segment morphology ( J:19328 )

• rapid thinning of the rod inner segment layer by P25, with a more gradual thinning at later stages

short photoreceptor inner segment ( J:19328 )

• at very late stages of degeneration, inner segments are shortened and broadened

short photoreceptor outer segment ( J:19328 )

• progressive shortening of the outer segments while maintaining relatively normal structure

abnormal retina rod cell outer segment morphology ( J:19328 )

• rapid thinning of the rod outer segment layer by P25, with a more gradual thinning at later stages

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