Phenotypes Associated with This Genotype

Genotype
MGI:5702324

• Allelic Composition: Ctsd^tm1.1Thre/Ctsd^tm1.1Thre; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * SJL

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

mortality/aging

premature death ( J:227618 )

• median survival is 31.5 days

nervous system

gliosis ( J:227618 )

• at P26

microgliosis ( J:227618 )

• at P26 but less than in knock-out mice

astrocytosis ( J:227618 )

• at P26 and increased at P31

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 P18 onward

digestive/alimentary system

decreased small intestinal villus height ( J:227618 )

• at P31, mice exhibit shortening of small intestinal villi compared with wild-type mice

small intestinal villus atrophy ( J:227618 )

• at P31, mice exhibit atrophy of small intestinal villi compared with wild-type mice

endocrine/exocrine glands

abnormal thymus morphology ( J:227618 )

• morphologically impaired at P31

hematopoietic system

abnormal thymus morphology ( J:227618 )

• morphologically impaired at P31

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

• at P31

• however, numbers are normal at P14

microgliosis ( J:227618 )

• at P26 but less than in knock-out mice

immune system

abnormal thymus morphology ( J:227618 )

• morphologically impaired at P31

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

• at P31

• however, numbers are normal at P14

microgliosis ( J:227618 )

• at P26 but less than in knock-out mice

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