Phenotypes associated with this allele

• Allele Symbol: Psap^tm1Juma
• Allele Name: targeted mutation 1, Junko Matsuda
• Allele ID: MGI:3521746
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psap^tm1Juma/Psap^tm1Juma	FVB.129S-Psap^tm1Juma	MGI:3712128
hm2	Psap^tm1Juma/Psap^tm1Juma	involves: 129S/SvEv * C57BL/6J	MGI:3521839

Genotype
MGI:3712128

hm1

• Allelic Composition: Psap^tm1Juma/Psap^tm1Juma
• Genetic Background: FVB.129S-Psap^tm1Juma

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

mortality/aging

premature death ( J:121761 )

• mice die by 40 days

nervous system

abnormal microglial cell physiology ( J:121761 )

• activated microglial cells are found in the liver and spleen at day 25

• activated microglial cells infiltrate brain stem neurons

abnormal brainstem morphology ( J:121761 )

• severe ballooning of neurons and infiltration with activated microglial cells

abnormal myelination ( J:121761 )

• myelin basic protein is decrease to 17% of normal

immune system

abnormal microglial cell physiology ( J:121761 )

• activated microglial cells are found in the liver and spleen at day 25

• activated microglial cells infiltrate brain stem neurons

hematopoietic system

abnormal microglial cell physiology ( J:121761 )

• activated microglial cells are found in the liver and spleen at day 25

• activated microglial cells infiltrate brain stem neurons

cellular

abnormal microglial cell physiology ( J:121761 )

• 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: Psap^tm1Juma/Psap^tm1Juma
• Genetic Background: involves: 129S/SvEv * C57BL/6J

mortality/aging

premature death ( J:94408 )

• maximal life span is about 500 days

behavior/neurological

polydipsia ( J:94408 )

• seen around 2 months of age accompanied by polyuria

abnormal motor coordination/balance ( J:94408 )

• develops around 4 months of age

ataxia ( J:94408 )

• seen around 6 months of age progresses into almost complete immobility at 15 months of age

abnormal gait ( J:94408 )

renal/urinary system

abnormal kidney cortex morphology ( J:94408 )

• around 15 months of age the renal cortex is significantly thinned

hydronephrosis ( J:94408 )

• seen around 15 months of age

abnormal renal tubule morphology ( J:94408 )

• renal tubular degeneration is seen however glomeruli are relatively normal

polyuria ( J:94408 )

• around 2 months of age mutants develop progressive polyuria producing more than 20 times the normal amount of urine

nervous system

Purkinje cell degeneration ( J:94408 )

• 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

small cerebellum ( J:94408 )

• around 15 months of age the cerebellum is smaller in mutants compared to wild-type littermates