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Phenotypes Associated with This Genotype
Genotype
MGI:5752257
Allelic
Composition
Ctsdm1J/Ctsdm1J
Genetic
Background
C3HeB/FeJ-Ctsdm1J/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsdm1J mutation (1 available); any Ctsd mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• histology of the brain found dead neurons in the cerebral cortex, hippocampus, and hypothalamus
• cross sections of the inner ear shows enlarged spiral ganglion but normal organ of Corti
• histology of the brain finds large and small dystrophic axons in many places

behavior/neurological
• by three weeks of age homozygotes display general weakness

mortality/aging
• all homozygotes are dead by 4 weeks of age
• most homozygotes die by 3 weeks of age, but some survive to 4 weeks of age
• intercrosses of heterozygotes produce fewer than 17% homozygous pups

growth/size/body
• by three weeks of age homozygotes become thinner overall with a sunken stomach

hearing/vestibular/ear
• auditory brainstem response analysis at two and three weeks of age found no response, indicative of complete deafness

digestive/alimentary system
• wavy colonic crypts, edematous villi in the small intesting and bubbly cytoplasm of transitional epithelium were found in a female assessed at 3.5 weeks of age
• hyperkeratosis of the stomach was found in a female assessed at 3.5 weeks of age

integument
• hair follicles of a female assessed at 3.5 weeks of age show all to be in catagen

endocrine/exocrine glands

immune system

hematopoietic system

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neuronal ceroid lipofuscinosis 10 DOID:0110725 OMIM:610127
J:229377


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory