Phenotypes associated with this allele

• Allele Symbol: Psap^tm1Ggb
• Allele Name: targeted mutation 1, Gregory A Grabowski
• Allele ID: MGI:3711720
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psap^tm1Ggb/Psap^tm1Ggb	involves: 129S/SvEv * C57BL/6J	MGI:3712126

Genotype
MGI:3712126

hm1

• Allelic Composition: Psap^tm1Ggb/Psap^tm1Ggb
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

mortality/aging

premature death ( J:121761 )

• all mice are dead by 60 days surviving longer than Psap^tm1Juma homozygotes

reproductive system

abnormal reproductive system physiology ( J:121761 )

• mice do not breed

nervous system

nervous system phenotype ( J:121761 )

N • mice have a normal brain stem unlike in Psap^tm1Juma homozygotes

abnormal microglial cell physiology ( J:121761 )

• activated microglial cells are found in regions of the brain including thalamus, hippocampus, cerebellum and cerebral cortex, spinal cord and sciatic nerve from as early as 10 days

• however, no activated microglial cells are detected in the liver or spleen as in Psap^tm1Juma homozygotes

abnormal forebrain morphology ( J:121761 )

• inclusions are present in cerebral neuronal cell bodies and axons

abnormal telencephalon morphology ( J:121761 )

• inclusions are present in cerebral neuronal cell bodies and axons

neuron degeneration ( J:121761 )

• degeneration is observed in the cortex and thalamus

Purkinje cell degeneration ( J:121761 )

• Purkinje cells are lost from cerebellar folia III at about 7 weeks

neuronal intranuclear inclusions ( J:121761 )

• neurons in the spinal cord, dorsal root ganglia, cortex and thalamus develop inclusions are visible at day 10 and progress significantly by week 7.5

axon degeneration ( J:121761 )

• inclusions are present in cerebral neuronal cell bodies and axons degenerated axonal globoid bodies are present

abnormal myelination ( J:121761 )

• myelin basic protein is decrease to about 45% of normal

behavior/neurological

abnormal behavior ( J:121761 )

• neurological deficits begin at 4 weeks as opposed to 20 days in Psap^tm1Juma homozygotes

ataxia ( J:121761 )

• at 5 weeks, rear legs spread out and mice develop an ataxic gait with uncoordinated walking

straub tail ( J:121761 )

• at 6 to 7 weeks

hindlimb paralysis ( J:121761 )

• at 6 to 7 weeks

skeleton

kyphosis ( J:121761 )

• at 6 to 7 weeks

hematopoietic system

abnormal spleen morphology ( J:121761 )

• 40% of mice have darkly colored sections of the spleens

abnormal microglial cell physiology ( J:121761 )

• activated microglial cells are found in regions of the brain including thalamus, hippocampus, cerebellum and cerebral cortex, spinal cord and sciatic nerve from as early as 10 days

• however, no activated microglial cells are detected in the liver or spleen as in Psap^tm1Juma homozygotes

growth/size/body

weight loss ( J:121761 )

• at 5 weeks, mice begin to loss weight

homeostasis/metabolism

abnormal lipid level ( J:121761 )

• levels of ceramide species are increased compared to wild-type and comparable to those seen in Psap^tm1Juma homozygotes in the liver, cerebrum, lung and kidney

renal/urinary system

renal/urinary system phenotype ( J:121761 )

N • mice do not develop polyuria as do Psap^tm1Suz homozygotes

immune system

abnormal spleen morphology ( J:121761 )

• 40% of mice have darkly colored sections of the spleens

abnormal microglial cell physiology ( J:121761 )

• activated microglial cells are found in regions of the brain including thalamus, hippocampus, cerebellum and cerebral cortex, spinal cord and sciatic nerve from as early as 10 days

• however, no activated microglial cells are detected in the liver or spleen as in Psap^tm1Juma homozygotes