Phenotypes Associated with This Genotype

Genotype
MGI:5702327

• Allelic Composition: Ctsd^tm1.1Thre/Ctsd^tm1.1Thre; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA * SJL

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

mortality/aging

premature death ( J:227618 )

• mice die at P26

nervous system

gliosis ( J:227618 )

• at P26

astrocytosis ( J:227618 )

• at P26

microgliosis ( J:227618 )

• at P26

neuron degeneration ( J:227618 )

• severe loss of neurons in the thalamic region and hippocampus at P26

growth/size/body

decreased body weight ( J:227618 )

• from P15 onward

• mice weigh half as much as littermate controls at P24

weight loss ( J:227618 )

• after P17

digestive/alimentary system

decreased small intestinal villus height ( J:227618 )

• at P26, mice exhibit shortening of small intestinal villi compared with wild-type mice

small intestinal villus atrophy ( J:227618 )

• at P26, mice exhibit atrophy of small intestinal villi compared with wild-type mice

endocrine/exocrine glands

thymus atrophy ( J:227618 )

• at P26

hematopoietic system

microgliosis ( J:227618 )

• at P26

thymus atrophy ( J:227618 )

• at P26

decreased double-positive T cell number ( J:227618 )

• at P26

• however, numbers are normal at P14

immune system

microgliosis ( J:227618 )

• at P26

thymus atrophy ( J:227618 )

• at P26

decreased double-positive T cell number ( J:227618 )

• at P26

• however, numbers are normal at P14

cellular

gliosis ( J:227618 )

• at P26

astrocytosis ( J:227618 )

• at P26

microgliosis ( J:227618 )

• at P26

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 10		DOID:0110725	OMIM:610127	J:227618