Phenotypes associated with this allele

• Allele Symbol: Psap^tm4.1Ggb
• Allele Name: targeted mutation 4.1, Gregory A Grabowski
• Allele ID: MGI:5510529
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psap^tm4.1Ggb/Psap^tm4.1Ggb	involves: 129S/SvEv * C57BL/6J	MGI:5510590

Genotype
MGI:5510590

hm1

• Allelic Composition: Psap^tm4.1Ggb/Psap^tm4.1Ggb
• 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 96 days

nervous system

nervous system phenotype ( J:198242 )

N • no inclusion bodies were found in the spinal cord and brains

microgliosis ( J:198242 )

• in various regions of the brain, uniformly distributed

amyloid beta deposits ( J:198242 )

• in the thalamus, pons, corpus callosum and cerebellar white matter without apoptosis

astrocytosis ( J:198242 )

• the thalamus, corpus callosum, brain stem and spinal cord

abnormal neuron morphology ( J:198242 )

• spinal cords contain inclusion material

behavior/neurological

abnormal habituation ( J:198242 )

• less habituation than wild-type mice

limb grasping ( J:198242 )

tremors ( J:198242 )

• at 12 weeks

impaired coordination ( J:198242 )

• at 12 weeks, mice exhibit increased foot slips on a 5mm squared round beam compared with wild-type mice

• mice exhibit fewer foot slips on a round beam compared with Psap^tm2Suz homozygotes

• however, mice exhibit no significant latency to cross beam

abnormal locomotor behavior ( J:198242 )

• locomotor defects between 61 and 88 days

decreased locomotor activity ( J:198242 )

• in the periphery especially at 12 weeks

hyperactivity ( J:198242 )

• in the central regions at 8 and 12 weeks

immune system

microgliosis ( J:198242 )

• in various regions of the brain, uniformly distributed

liver/biliary system

abnormal liver morphology ( J:198242 )

• engorged storage macrophages in the liver at greater than 4 weeks

renal/urinary system

abnormal distal convoluted tubule morphology ( J:198242 )

• storage bodies in the distal tubules of the kidney

cardiovascular system

abnormal vascular endothelial cell morphology ( J:198242 )

• membrane inclusion bodies are found in vascular endothelial cells in the spinal cords

cellular

enhanced autophagy ( J:198242 )

• increased autophagy in the brain

growth/size/body

weight loss ( J:198242 )

• with onset of motor defects

hematopoietic system

microgliosis ( J:198242 )

• in various regions of the brain, uniformly distributed

homeostasis/metabolism

enhanced autophagy ( J:198242 )

• increased autophagy in the brain

amyloid beta deposits ( J:198242 )

• in the thalamus, pons, corpus callosum and cerebellar white matter without apoptosis

abnormal lipid homeostasis ( J:198242 )

• abnormal glycosphingolipid metabolism with substantial increases in lactosylceramide in the liver, sulfatide accumulation in the brain and kidneys and decreased galctosylsphingosine in the brain