Mouse Genome Informatics
hm
    Clcn3tm1Suc/Clcn3tm1Suc
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• increased mortality is seen 3-4 weeks after weaning

behavior/neurological
• homozygotes have impaired performance in the hanging wire and rotarod tests
• homozygotes display spontaneous hyperactivity at night

digestive/alimentary system
• the ileal mucosa is focally lost

growth/size/body
• at 6 weeks of age body weight is about 25% lower in homozygous mutants

liver/biliary system
• acidification and Cl ion accumulation are impaired in homozygous mutant hepatocytes (J:96150)
• intraluminal pH is significantly increased in the liver (J:96311)

skeleton

vision/eye
• the inner and outer segments and the outer nuclear layer are absent at 2 months of age indicating photoreceptor degeneration
• impaired performance in the visible water maze suggests that homozygotes are blind

nervous system
• abundant lysosome-like structures are seen in the perikarya of pyramidal neurons n the hippocampus
• the density of pyramidal neurons in the hippocampus is reduced at 2 months of age
• atrophy of the hippocampus is seen at 2 months of age
• autolysosome- or autophagosome-like bodies containing numerous membranous structures are seen in the hippocampus

Mouse Models of Human Disease
OMIM IDRef(s)
Ceroid Lipofuscinosis, Neuronal, 3; CLN3 204200 J:96311