Phenotypes associated with this allele

• Allele Symbol: Ctsd^m1J
• Allele Name: mutation 1, Jackson
• Allele ID: MGI:5752221
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ctsd^m1J/Ctsd^m1J	C3HeB/FeJ-Ctsd^m1J/GrsrJ	MGI:5752257

Genotype
MGI:5752257

hm1

• Allelic Composition: Ctsd^m1J/Ctsd^m1J
• Genetic Background: C3HeB/FeJ-Ctsd^m1J/GrsrJ

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

nervous system

neuron degeneration ( J:229377 )

• histology of the brain found dead neurons in the cerebral cortex, hippocampus, and hypothalamus

hippocampal neuron degeneration ( J:229377 )

abnormal cochlear ganglion morphology ( J:229377 )

• cross sections of the inner ear shows enlarged spiral ganglion but normal organ of Corti

axonal dystrophy ( J:229377 )

• histology of the brain finds large and small dystrophic axons in many places

behavior/neurological

weakness ( J:229377 )

• by three weeks of age homozygotes display general weakness

mortality/aging

lethality at weaning, complete penetrance ( J:229377 )

• all homozygotes are dead by 4 weeks of age

preweaning lethality, incomplete penetrance ( J:229377 )

• most homozygotes die by 3 weeks of age, but some survive to 4 weeks of age

prenatal lethality, incomplete penetrance ( J:229377 )

• intercrosses of heterozygotes produce fewer than 17% homozygous pups

growth/size/body

decreased body weight ( J:229377 )

• by three weeks of age homozygotes become thinner overall with a sunken stomach

cachexia ( J:229377 )

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:229377 )

deafness ( J:229377 )

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

digestive/alimentary system

abnormal intestinal mucosa morphology ( J:229377 )

• 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

abnormal stomach wall morphology ( J:229377 )

• hyperkeratosis of the stomach was found in a female assessed at 3.5 weeks of age

integument

abnormal hair cycle ( J:229377 )

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

endocrine/exocrine glands

thymus atrophy ( J:229377 )

immune system

thymus atrophy ( J:229377 )

hematopoietic system

thymus atrophy ( J:229377 )

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