Phenotypes Associated with This Genotype

Genotype
MGI:3574028

• Allelic Composition: Clcn3^tm1Suc/Clcn3^tm1Suc
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

premature death ( J:96311 )

• increased mortality is seen 3-4 weeks after weaning

behavior/neurological

impaired coordination ( J:96311 )

• homozygotes have impaired performance in the hanging wire and rotarod tests

hyperactivity ( J:96311 )

• homozygotes display spontaneous hyperactivity at night

digestive/alimentary system

abnormal ileum morphology ( J:96311 )

• the ileal mucosa is focally lost

growth/size/body

decreased body weight ( J:96311 )

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

liver/biliary system

abnormal liver physiology ( J:96311 , J:96150 )

• intraluminal pH is significantly increased in the liver (J:96311)

• acidification and Cl ion accumulation are impaired in homozygous mutant hepatocytes (J:96150)

skeleton

kyphoscoliosis ( J:96311 )

vision/eye

abnormal retina neuronal layer morphology ( J:96311 )

• the inner and outer segments and the outer nuclear layer are absent at 2 months of age indicating photoreceptor degeneration

blindness ( J:96311 )

• impaired performance in the visible water maze suggests that homozygotes are blind

nervous system

abnormal astrocyte morphology ( J:96311 )

• autolysosome- or autophagosome-like bodies containing numerous membranous structures are seen in the hippocampus

abnormal hippocampus pyramidal cell morphology ( J:96311 )

• abundant lysosome-like structures are seen in the perikarya of pyramidal neurons n the hippocampus

decreased hippocampus pyramidal cell number ( J:96311 )

• the density of pyramidal neurons in the hippocampus is reduced at 2 months of age

hippocampus atrophy ( J:96311 )

• atrophy of the hippocampus is seen at 2 months of age

cellular

abnormal astrocyte morphology ( J:96311 )

• autolysosome- or autophagosome-like bodies containing numerous membranous structures are seen in the hippocampus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 3		DOID:0110731	OMIM:204200	J:96311