Phenotypes associated with this allele

• Allele Symbol: Psap^tm2Ggb
• Allele Name: targeted mutation 2, Gregory A Grabowski
• Allele ID: MGI:3802531
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psap^tm2Ggb/Psap^tm2Ggb	involves: 129S/SvEv * C57BL/6J	MGI:3802581

Genotype
MGI:3802581

hm1

• Allelic Composition: Psap^tm2Ggb/Psap^tm2Ggb
• Genetic Background: involves: 129S/SvEv * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:198242 )

• average lifespan 644 days

nervous system

nervous system phenotype ( J:137650 )

N • normal long term potentiation and myelin sheath integrity

microgliosis ( J:198242 )

• uniformly distributed in the brain

abnormal nervous system physiology ( J:137650 )

• 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

CNS inflammation ( J:137650 )

• 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

abnormal neuron physiology ( J:137650 )

• neurons in the brain stem and spinal cord contain a few scattered inclusion bodies

behavior/neurological

behavior/neurological phenotype ( J:137650 )

N • no change in locomotor activity is detected at any age tested

limb grasping ( J:137650 )

tremors ( J:137650 , J:198242 )

• 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)

ataxia ( J:137650 )

• seen at 15 months of age

impaired balance ( 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

• by 15 months of age, 90% of null mice fall off a 5 mm beam

impaired coordination ( J:137650 )

• develop an unsteady gait by 12 months of age

renal/urinary system

abnormal urine homeostasis ( J:137650 )

• elevated sulfatide levels

abnormal kidney physiology ( J:137650 )

• 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

kidney inflammation ( J:137650 )

• increase in macrophage/microglial CD68-positive cells in the kidney

immune system

microgliosis ( J:198242 )

• uniformly distributed in the brain

CNS inflammation ( J:137650 )

• 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

kidney inflammation ( J:137650 )

• increase in macrophage/microglial CD68-positive cells in the kidney

respiratory system

abnormal respiratory system physiology ( J:137650 )

• elevated sulfatide levels in the lungs

homeostasis/metabolism

abnormal urine homeostasis ( J:137650 )

• elevated sulfatide levels

hematopoietic system

microgliosis ( J:198242 )

• uniformly distributed in the brain

growth/size/body

decreased body weight ( J:137650 )

• 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