Mouse Genome Informatics
hm1
    Psaptm2Ggb/Psaptm2Ggb
involves: 129S/SvEv * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• average lifespan 644 days

nervous system
N
• normal long term potentiation and myelin sheath integrity (J:137650)
• 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 (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)
• 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 weight is 86% of wild-type littermates in adult homozygotes

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