Phenotypes Associated with This Genotype

Genotype
MGI:5619656

• Allelic Composition: fm/fm
• Genetic Background: involves: CBA/H

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

nervous system

nervous system phenotype ( J:5696 )

N • electron microscopic and histochemical analyses show normal central nervous system morphology

abnormal cerebral hemisphere morphology ( J:5417 )

• EM analysis of mutant mice at ten weeks of age show abnormalities of the neuronal cytoplasm

abnormal cerebellum morphology ( J:5417 )

• EM analysis of mutant mice at ten weeks of age show abnormalities of the neuronal cytoplasm

abnormal cerebellar cortex morphology ( J:5417 )

• electron microscopic analysis of 4 month old mutant mice shows electron-dense inclusions in pericytes of cortex capillaries

abnormal Purkinje cell morphology ( J:5417 )

• Purkinje cells of the cerebellum and cerebrum of ten week old mice contained dilated cisternae within the smooth endoplasmic reticulum

abnormal neuron morphology ( J:275 )

neuronal cytoplasmic inclusions ( J:5417 )

• electron microscopic analysis demonstrated occasional electron-lucent inclusions in the neurons of the central nervous system of 4 month old mutant mice

• when seen,inclusions are membrane bound and mixed with dense granules

behavior/neurological

decreased locomotor activity ( J:275 )

• by 10-14 weeks of age affected mice are less active compared with normal littermates

endocrine/exocrine glands

abnormal thymus morphology ( J:275 )

• foam cells replace the lymphoid tissue of the thymus

hematopoietic system

abnormal thymus morphology ( J:275 )

• foam cells replace the lymphoid tissue of the thymus

abnormal spleen morphology ( J:275 , J:5417 )

• foam cells replace some of the lymphoid tissue of the spleen (J:275)

• electron microscopic analysis of spleen of 4 month old mutant mice reveals endothelial cells with membrane-bound, electron-luscent inclusions and dense granules; cisternae of the endoplasmic reticulum are dilated (J:5417)

• splenic macrophages contained cytoplasmic inclusions (J:5417)

immune system

abnormal thymus morphology ( J:275 )

• foam cells replace the lymphoid tissue of the thymus

abnormal spleen morphology ( J:275 , J:5417 )

• foam cells replace some of the lymphoid tissue of the spleen (J:275)

• electron microscopic analysis of spleen of 4 month old mutant mice reveals endothelial cells with membrane-bound, electron-luscent inclusions and dense granules; cisternae of the endoplasmic reticulum are dilated (J:5417)

• splenic macrophages contained cytoplasmic inclusions (J:5417)

abnormal Peyer's patch morphology ( J:275 )

• foam cells replace the lymphoid tissue of Peyer's patches

abnormal lymph node morphology ( J:275 )

• foam cells replace some of the lymphoid tissue of the lymph nodes

cellular

foam cell reticulosis ( J:275 )

abnormal endoplasmic reticulum morphology ( J:5417 )

• greatly dilated in spleen of 4 month old mutant mice

sphingomyelinosis ( J:5112 )

liver/biliary system

abnormal liver morphology ( J:275 , J:5417 )

• foam cells replace some of the lymphoid tissue of the liver (J:275)

• electron microscopic analysis of liver from 10 week old mice reveals extensive proliferation of smooth endoplasmic reticulum (J:5417)

• quantitative analysis of cytoplasmic inclusions between week 10 and 12 shows variation in size and shape, being more electron-lucent by the end of week 13 and membrane bound by 14 weeks (J:5417)

• Kupffer cells contain dense cytoplasmic bodies but no electron-lucent inclusions (J:5417)

homeostasis/metabolism

abnormal cholesterol level ( J:5112 )

• determined in the thymus but not in the liver or spleen of mutant mice

abnormal sphingomyelin level ( J:5112 )

• determined in the thymus but not in the liver or spleen of mutant mice

sphingomyelinosis ( J:5112 )

growth/size/body

decreased body weight ( J:275 )

• affected mice are thin by 10-14 weeks of age

• early indications include loss of rounded contour of the abdomen and the appearance of loose folds of skin on the flanks

weight loss ( J:275 )

• mice become thin by 10 to 14 weeks old and continue to lose weight during the rest of their life

cachexia ( J:5696 )

• mutant mice are obviously thin by 10 weeks of age and continue to decline in thriftiness and activity with death by 6 months of age

mortality/aging

premature death ( J:275 , J:5696 )

• all affected mice are dead by 6 months of age (J:275)

• mutant mice generally do not live beyond 6 months of age (J:5696)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Niemann-Pick disease		DOID:14504		J:5696