Phenotypes Associated with This Genotype

Genotype
MGI:3521839

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

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

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