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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Psaptm1Juma
targeted mutation 1, Junko Matsuda
MGI:3521746
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Psaptm1Juma/Psaptm1Juma FVB.129S-Psaptm1Juma MGI:3712128
hm2
Psaptm1Juma/Psaptm1Juma involves: 129S/SvEv * C57BL/6J MGI:3521839


Genotype
MGI:3712128
hm1
Allelic
Composition
Psaptm1Juma/Psaptm1Juma
Genetic
Background
FVB.129S-Psaptm1Juma
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psaptm1Juma mutation (1 available); any Psap mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 40 days

nervous system
• activated microglial cells are found in the liver and spleen at day 25
• activated microglial cells infiltrate brain stem neurons
• severe ballooning of neurons and infiltration with activated microglial cells
• myelin basic protein is decrease to 17% of normal

immune system
• activated microglial cells are found in the liver and spleen at day 25
• activated microglial cells infiltrate brain stem neurons

hematopoietic system
• activated microglial cells are found in the liver and spleen at day 25
• activated microglial cells infiltrate brain stem neurons




Genotype
MGI:3521839
hm2
Allelic
Composition
Psaptm1Juma/Psaptm1Juma
Genetic
Background
involves: 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psaptm1Juma mutation (1 available); any Psap mutation (36 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• maximal life span is about 500 days

behavior/neurological
• seen around 2 months of age accompanied by polyuria
• develops around 4 months of age
• seen around 6 months of age progresses into almost complete immobility at 15 months of age

renal/urinary system
• around 15 months of age the renal cortex is significantly thinned
• seen around 15 months of age
• renal tubular degeneration is seen however glomeruli are relatively normal
• around 2 months of age mutants develop progressive polyuria producing more than 20 times the normal amount of urine

nervous system
• loss of Purkinje cells is first seen between 2-4 months of age with most Purkinje cells missing by 15 months of age
• the loss of Purkinje cells forms distinct patterns with surviving cells aligned in strips in coronal sections and concentrated in the dorsal lobe vermis of the cerebellum
• around 15 months of age the cerebellum is smaller in mutants compared to wild-type littermates





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
11/12/2024
MGI 6.24
The Jackson Laboratory