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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smpd1tm1Wst
targeted mutation 1, Wilhelm Stoffel
MGI:2183207
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Smpd1tm1Wst/Smpd1tm1Wst involves: 129P2/OlaHsd * C57BL/6 MGI:3029165


Genotype
MGI:3029165
hm1
Allelic
Composition
Smpd1tm1Wst/Smpd1tm1Wst
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smpd1tm1Wst mutation (0 available); any Smpd1 mutation (6 available)
phenotype observed in females
phenotype observed in males
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





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory