Mouse Genome Informatics
hm
    Cln8mnd/Cln8mnd
involves: AKR/J * B6.KB2
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• Background Sensitivity: death by 7 months of age, compared to 9-14 months on the inbred B6.KB2 background (J:1224)

vision/eye
• focal thinning of the retinal pigment epithelium occurs at late stages of degeneration
• 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
• rapid thinning of the rod inner segment layer by P25, with a more gradual thinning at later stages
• at very late stages of degeneration, inner segments are shortened and broadened
• rapid thinning of the rod outer segment layer by P25, with a more gradual thinning at later stages
• progressive shortening of the outer segments while maintaining relatively normal structure
• detectable at P15 and more pronounced with age

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

nervous system
• 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
• Background Sensitivity: motor neuron disease is accelerated with 40% exhibiting symptoms by 4.5 months of age and dying by 6.5-7 months
• rapid thinning of the rod inner segment layer by P25, with a more gradual thinning at later stages
• at very late stages of degeneration, inner segments are shortened and broadened
• rapid thinning of the rod outer segment layer by P25, with a more gradual thinning at later stages
• progressive shortening of the outer segments while maintaining relatively normal structure

Mouse Models of Human Disease
OMIM IDRef(s)
Ceroid Lipofuscinosis, Neuronal, 8; CLN8 600143 J:56219