Phenotypes Associated with This Genotype

Genotype
MGI:3623263

• Allelic Composition: Cln3^tm1Mkat/Cln3^tm1Mkat
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

cellular

abnormal lysosome morphology ( J:57155 )

• by 11 weeks of age, cellular inclusions with characteristics of lysosomal storage bodies are observed in mutant brains

liver/biliary system

abnormal liver morphology ( J:57155 )

• by 11 weeks of age, cellular inclusions with characteristics of lysosomal storage bodies are observed in mutant livers

nervous system

abnormal cerebral cortex morphology ( J:57155 )

• by 11 weeks of age, cellular inclusions with characteristics of lysosomal storage bodies are observed in mutant cerebral cortical neurons

reproductive system

abnormal fertility/fecundity ( J:57155 )

• breeding success of homozygotes is significantly lower than that of wild-type or heterozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 3		DOID:0110731	OMIM:204200	J:57155