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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 (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• average lifespan 644 days

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

behavior/neurological
N
• no change in locomotor activity is detected at any age tested
• 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)
• seen at 15 months of age
• 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
• by 15 months of age, 90% of null mice fall off a 5 mm beam
• develop an unsteady gait by 12 months of age

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

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

respiratory system
• elevated sulfatide levels in the lungs

homeostasis/metabolism
• elevated sulfatide levels

hematopoietic system
• uniformly distributed in the brain

growth/size/body
• body weight is 86% of wild-type littermates in adult homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
metachromatic leukodystrophy DOID:10581 OMIM:249900
OMIM:250100
J:137650


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory