Phenotypes Associated with This Genotype

Genotype
MGI:3029165

• Allelic Composition: Smpd1^tm1Wst/Smpd1^tm1Wst
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

premature death ( J:26748 )

• at approximately 4 months of age

growth/size/body

enlarged liver ( J:26748 )

• hepatosplenomegaly noticeable at P60; the liver is 1.5 times larger than controls ; hepatocytes and Kupffer cells appear swollen and have a foam cell appearance

enlarged spleen ( J:26748 )

• hepatosplenomegaly noticeable at P60; the spleen is 2 times larger than controls

hepatosplenomegaly ( J:26748 )

• hepatosplenomegaly noticeable at P60

behavior/neurological

tremors ( J:26748 )

• a fine tremor of the whole body and a severe intention tremor noticeable at 8 weeks of age

ataxia ( J:26748 )

• first noticeable at 8 weeks, progressive with age; described as tottering with zigzag movement or straddle legged

impaired coordination ( J:26748 )

• progressive loss of motor coordination was noted in a rotarod test

hematopoietic system

increased macrophage derived foam cell number ( J:26748 )

• foam cells are present in choroid plexus endothelium and in liver

enlarged spleen ( J:26748 )

• hepatosplenomegaly noticeable at P60; the spleen is 2 times larger than controls

hepatosplenomegaly ( J:26748 )

• hepatosplenomegaly noticeable at P60

homeostasis/metabolism

abnormal lipid homeostasis ( J:26748 )

• lipid analysis on liver, spleen and brain tissues demonstrated an accumulation of sphingomyelin and other lipids, especially in liver and spleen

immune system

increased macrophage derived foam cell number ( J:26748 )

• foam cells are present in choroid plexus endothelium and in liver

enlarged spleen ( J:26748 )

• hepatosplenomegaly noticeable at P60; the spleen is 2 times larger than controls

hepatosplenomegaly ( J:26748 )

• hepatosplenomegaly noticeable at P60

liver/biliary system

enlarged liver ( J:26748 )

• hepatosplenomegaly noticeable at P60; the liver is 1.5 times larger than controls ; hepatocytes and Kupffer cells appear swollen and have a foam cell appearance

hepatosplenomegaly ( J:26748 )

• hepatosplenomegaly noticeable at P60

respiratory system

abnormal pulmonary alveolus morphology ( J:26748 )

• alveoli of the lungs are infiltrated with lipid-loaded histocytes

respiratory distress ( J:26748 )

• dyspneic at 120 days of age; pulmonary distress leads to restricted activity and to death

nervous system

abnormal choroid plexus morphology ( J:26748 )

• endothelium of the choroid plexus is swollen and loaded with foam cells; large cells infiltrated the spinal fluid space of the plexus

abnormal cerebral cortex morphology ( J:26748 )

• cortical structure is disrupted due to loss of cells in both the cerebral and cerebellar corticies

Purkinje cell degeneration ( J:26748 )

• loss of Purkinje cells occurs 60-90 days after birth

gliosis ( J:26748 )

• gliosis seen in gray and white matter

cellular

increased macrophage derived foam cell number ( J:26748 )

• foam cells are present in choroid plexus endothelium and in liver

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Niemann-Pick disease		DOID:14504		J:26748