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Phenotypes Associated with This Genotype
Genotype
MGI:3802581
Allelic
Composition
Psaptm2Ggb/Psaptm2Ggb
Genetic
Background
involves: 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psaptm2Ggb mutation (0 available); any Psap mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average lifespan 644 days (J:198242)
• average lifespan 644 days (J:198242)

nervous system
N
• normal long term potentiation and myelin sheath integrity (J:137650)
• normal long term potentiation and myelin sheath integrity (J:137650)
• uniformly distributed in the brain (J:198242)
• uniformly distributed in the brain (J:198242)
• accumulation of acidic sulfatides in the spinal cord and brain beginning at 12 and 24 weeks of age, respectively (J:137650)
• excessive acidic sulfated material is primarily located in the oligodendrocytes which are filled with heterogeneous membranous material (J:137650)
• accumulation of acidic sulfatides in the spinal cord and brain beginning at 12 and 24 weeks of age, respectively (J:137650)
• excessive acidic sulfated material is primarily located in the oligodendrocytes which are filled with heterogeneous membranous material (J:137650)
• increase in macrophage/microglial CD68-positive cells in the spinal cord, sciatic nerve, and various regions of the brain (J:137650)
• increase in astrocytes in the brain stem, corpus callosum, thalamus, spinal cord and cerebellum (J:137650)
• increase in macrophage/microglial CD68-positive cells in the spinal cord, sciatic nerve, and various regions of the brain (J:137650)
• increase in astrocytes in the brain stem, corpus callosum, thalamus, spinal cord and cerebellum (J:137650)
• neurons in the brain stem and spinal cord contain a few scattered inclusion bodies (J:137650)
• neurons in the brain stem and spinal cord contain a few scattered inclusion bodies (J:137650)

behavior/neurological
N
• no change in locomotor activity is detected at any age tested (J:137650)
• no change in locomotor activity is detected at any age tested (J:137650)
• agitation and head tremors while standing (J:137650)
• intermittent shivering is seen by 15 months of age (J:137650)
• agitation and head tremors while standing (J:137650)
• intermittent shivering is seen by 15 months of age (J:137650)
• at 14 to 19 months (J:198242)
• at 14 to 19 months (J:198242)
• seen at 15 months of age (J:137650)
• seen at 15 months of age (J:137650)
• progressive increases in latency to cross a 5 or 12 mm beam and in hind limb slips off the beam starting by 2 months of age (J:137650)
• by 15 months of age, 90% of null mice fall off a 5 mm beam (J:137650)
• progressive increases in latency to cross a 5 or 12 mm beam and in hind limb slips off the beam starting by 2 months of age (J:137650)
• by 15 months of age, 90% of null mice fall off a 5 mm beam (J:137650)
• develop an unsteady gait by 12 months of age (J:137650)
• develop an unsteady gait by 12 months of age (J:137650)

renal/urinary system
• elevated sulfatide levels (J:137650)
• elevated sulfatide levels (J:137650)
• accumulation of acidic sulfatides in the kidney beginning at 7 weeks of age (J:137650)
• large amounts of storage materials (variable sized granular material and multivesicular bodies) are found in the proximal and distal tubular epithelium (J:137650)
• accumulation of acidic sulfatides in the kidney beginning at 7 weeks of age (J:137650)
• large amounts of storage materials (variable sized granular material and multivesicular bodies) are found in the proximal and distal tubular epithelium (J:137650)
• increase in macrophage/microglial CD68-positive cells in the kidney (J:137650)
• increase in macrophage/microglial CD68-positive cells in the kidney (J:137650)

immune system
• uniformly distributed in the brain (J:198242)
• uniformly distributed in the brain (J:198242)
• increase in macrophage/microglial CD68-positive cells in the spinal cord, sciatic nerve, and various regions of the brain (J:137650)
• increase in astrocytes in the brain stem, corpus callosum, thalamus, spinal cord and cerebellum (J:137650)
• increase in macrophage/microglial CD68-positive cells in the spinal cord, sciatic nerve, and various regions of the brain (J:137650)
• increase in astrocytes in the brain stem, corpus callosum, thalamus, spinal cord and cerebellum (J:137650)
• increase in macrophage/microglial CD68-positive cells in the kidney (J:137650)
• increase in macrophage/microglial CD68-positive cells in the kidney (J:137650)

respiratory system
• elevated sulfatide levels in the lungs (J:137650)
• elevated sulfatide levels in the lungs (J:137650)

homeostasis/metabolism
• elevated sulfatide levels (J:137650)
• elevated sulfatide levels (J:137650)

hematopoietic system
• uniformly distributed in the brain (J:198242)
• uniformly distributed in the brain (J:198242)

growth/size/body
• body weight is 86% of wild-type littermates in adult homozygotes (J:137650)
• body weight is 86% of wild-type littermates in adult homozygotes (J:137650)

Mouse Models of Human Disease
OMIM ID Ref(s)
Metachromatic Leukodystrophy Due to Saposin B Deficiency 249900 J:137650


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory