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Phenotypes Associated with This Genotype
Genotype
MGI:3574028
Allelic
Composition
Clcn3tm1Suc/Clcn3tm1Suc
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn3tm1Suc mutation (0 available); any Clcn3 mutation (72 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• increased mortality is seen 3-4 weeks after weaning (J:96311)
• increased mortality is seen 3-4 weeks after weaning (J:96311)

behavior/neurological
• homozygotes have impaired performance in the hanging wire and rotarod tests (J:96311)
• homozygotes have impaired performance in the hanging wire and rotarod tests (J:96311)
• homozygotes display spontaneous hyperactivity at night (J:96311)
• homozygotes display spontaneous hyperactivity at night (J:96311)

digestive/alimentary system
• the ileal mucosa is focally lost (J:96311)
• the ileal mucosa is focally lost (J:96311)

growth/size/body
• at 6 weeks of age body weight is about 25% lower in homozygous mutants (J:96311)
• at 6 weeks of age body weight is about 25% lower in homozygous mutants (J:96311)

liver/biliary system
• acidification and Cl ion accumulation are impaired in homozygous mutant hepatocytes (J:96150)
• acidification and Cl ion accumulation are impaired in homozygous mutant hepatocytes (J:96150)
• intraluminal pH is significantly increased in the liver (J:96311)
• 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 (J:96311)
• the inner and outer segments and the outer nuclear layer are absent at 2 months of age indicating photoreceptor degeneration (J:96311)
• impaired performance in the visible water maze suggests that homozygotes are blind (J:96311)
• impaired performance in the visible water maze suggests that homozygotes are blind (J:96311)

nervous system
• abundant lysosome-like structures are seen in the perikarya of pyramidal neurons n the hippocampus (J:96311)
• abundant lysosome-like structures are seen in the perikarya of pyramidal neurons n the hippocampus (J:96311)
• the density of pyramidal neurons in the hippocampus is reduced at 2 months of age (J:96311)
• the density of pyramidal neurons in the hippocampus is reduced at 2 months of age (J:96311)
• atrophy of the hippocampus is seen at 2 months of age (J:96311)
• atrophy of the hippocampus is seen at 2 months of age (J:96311)
• autolysosome- or autophagosome-like bodies containing numerous membranous structures are seen in the hippocampus (J:96311)
• autolysosome- or autophagosome-like bodies containing numerous membranous structures are seen in the hippocampus (J:96311)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory