Mouse Genome Informatics
hm1
    Smpd1tm1Wst/Smpd1tm1Wst
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• at approximately 4 months of age

behavior/neurological
• a fine tremor of the whole body and a severe intention tremor noticeable at 8 weeks of age
• first noticeable at 8 weeks, progressive with age; described as tottering with zigzag movement or straddle legged
• progressive loss of motor coordination was noted in a rotarod test

hematopoietic system
• foam cells are present in choroid plexus endothelium and in liver
• hepatosplenomegaly noticeable at P60; the spleen is 2 times larger than controls

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

immune system
• foam cells are present in choroid plexus endothelium and in liver
• hepatosplenomegaly noticeable at P60; the spleen is 2 times larger than controls

liver/biliary system
• 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

respiratory system
• alveoli of the lungs are infiltrated with lipid-loaded histocytes
• dyspneic at 120 days of age; pulmonary distress leads to restricted activity and to death

nervous system
• endothelium of the choroid plexus is swollen and loaded with foam cells; large cells infiltrated the spinal fluid space of the plexus
• cortical structure is disrupted due to loss of cells in both the cerebral and cerebellar corticies
• loss of Purkinje cells occurs 60-90 days after birth
• gliosis seen in gray and white matter

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