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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ctsdtm1.1Thre
targeted mutation 1.1, Thomas Reinheckel
MGI:5702318
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Ctsdtm1.1Thre/Ctsdtm1.1Thre
Edil3Tg(Sox2-cre)1Amc/Edil3+ 		involves: C57BL/6 * C57BL/6N * CBA * SJL MGI:5702327
cn2
 		Ctsdtm1.1Thre/Ctsdtm1.1Thre
Tg(Nes-cre)1Kln/0 		involves: C57BL/6 * C57BL/6N * SJL MGI:5702324


Genotype
MGI:5702327
cn1
Allelic
Composition		 Ctsdtm1.1Thre/Ctsdtm1.1Thre
Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic
Background		 involves: C57BL/6 * C57BL/6N * CBA * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsdtm1.1Thre mutation (0 available); any Ctsd mutation (19 available)
Edil3Tg(Sox2-cre)1Amc mutation (5 available); any Edil3 mutation (42 available)
♀ 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
microgliosis ( J:227618 )
• at P26
astrocytosis ( 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
thymus atrophy ( J:227618 )
• at P26
decreased double-positive T cell number ( J:227618 )
• at P26
• however, numbers are normal at P14
microgliosis ( J:227618 )
• at P26

immune system
thymus atrophy ( J:227618 )
• at P26
decreased double-positive T cell number ( J:227618 )
• at P26
• however, numbers are normal at P14
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




Genotype
MGI:5702324
cn2
Allelic
Composition		 Ctsdtm1.1Thre/Ctsdtm1.1Thre
Tg(Nes-cre)1Kln/0
Genetic
Background		 involves: C57BL/6 * C57BL/6N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsdtm1.1Thre mutation (0 available); any Ctsd mutation (19 available)
Tg(Nes-cre)1Kln mutation (4 available)
♀ 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




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Send questions and comments to User Support. 		last database update
05/14/2024
MGI 6.23 		The Jackson Laboratory