About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/22/2024
MGI 6.24
The Jackson Laboratory