Phenotypes Associated with This Genotype

Genotype
MGI:5450833

• Allelic Composition: Pikfyve^{Gt(AT0926)Wtsi}/Pikfyve^{Gt(AT0926)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Spongiform degeneration in Pikfyve^{Gt(AT0926)Wtsi}/Pikfyve^{Gt(AT0926)Wtsi} neonatal hearts

mortality/aging

postnatal lethality, complete penetrance ( J:190368 )

• most die around P0 but a few survive to 2 weeks of age

perinatal lethality, incomplete penetrance ( J:190368 )

• most die around P0 but a few survive to 2 weeks of age

homeostasis/metabolism

abnormal lipid level ( J:190368 )

• a 50% decrease in the level of phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) with a corresponding increase in the precursor PI3P in fibroblasts

• a 50% decrease in PI5P in fibroblasts

nervous system

abnormal brain morphology ( J:190368 )

decreased brain weight ( J:190368 )

• about 30% the weight of heterozygous littermates at P16

abnormal brainstem morphology ( J:190368 )

• prominent vacuolation of the brainstem at P16, particularly in the midbrain and pons

abnormal midbrain morphology ( J:190368 )

• prominent vacuolation at P16

abnormal pons morphology ( J:190368 )

• prominent vacuolation at P16

abnormal cerebellum deep nucleus morphology ( J:190368 )

• prominent vacuolation of the deep nuclei at P16

brain vacuoles ( J:190368 )

• vacuolation in the caudal cortical subventricular neuroepithelium and dorsal root ganglia in neonates

• prominent vacuolation of the cerebellum deep nuclei and brainstem at P16

abnormal embryonic/fetal subventricular zone morphology ( J:190368 )

• vacuolation in the caudal cortical subventricular neuroepithelium in neonates

abnormal neuron morphology ( J:190368 )

• many primary neurons from P0 mice form vacuoles in culture

abnormal dorsal root ganglion morphology ( J:190368 )

• vacuoles are present in neonates

abnormal spinal cord morphology ( J:190368 )

• vacuolation at P16

cardiovascular system

pulmonary vascular congestion ( J:190368 )

abnormal superior vena cava morphology ( J:190368 )

• enlarged at 2 weeks of age

abnormal heart morphology ( J:190368 )

abnormal atrium myocardium morphology ( J:190368 )

• decrease in the density of atrial myocytes in neonates

• large translucent vacuoles are present in neonates

• extensive vacuolation is seen at 2 weeks of age

abnormal ventricle myocardium morphology ( J:190368 )

• small vacuoles are detected at 2 weeks of age

increased heart right atrium size ( J:190368 )

• at 2 weeks of age

small heart ( J:190368 )

• at 2 weeks of age

dilated heart right ventricle ( J:190368 )

• when corrected for body size right ventricular end diastolic dimension is increased consistent with right ventricular dilation

respiratory system

pulmonary vascular congestion ( J:190368 )

abnormal pulmonary alveolar system morphology ( J:190368 )

• increase in the ratio of cellularity in the alveolar region and decreased airspace in the lung

• areas lacking alveolar development are seen

hematopoietic system

abnormal thymus morphology ( J:190368 )

• contains numerous small vacuoles at P16

thymus hypoplasia ( J:190368 )

• smaller with reduced cellular density at P16

abnormal spleen morphology ( J:190368 )

• contains numerous small vacuoles at P16

spleen hypoplasia ( J:190368 )

• smaller with reduced cellular density at P16

renal/urinary system

abnormal renal tubule morphology ( J:190368 )

• multiple small vacuoles are present at P0

• progression in degeneration by P19 with some tubules filled with vacuoles and apparent loss of tubules

kidney degeneration ( J:190368 )

• progression in degeneration by P19 with some tubules filled with vacuoles and apparent loss of tubules

growth/size/body

decreased birth body size ( J:190368 )

• about 50% smaller than littermates at birth

decreased body weight ( J:190368 )

• about half the weight of heterozygous littermates at P16

behavior/neurological

abnormal locomotor behavior ( J:190368 )

• mice that survive to P18-19 display severely impaired mobility

immune system

abnormal thymus morphology ( J:190368 )

• contains numerous small vacuoles at P16

thymus hypoplasia ( J:190368 )

• smaller with reduced cellular density at P16

abnormal spleen morphology ( J:190368 )

• contains numerous small vacuoles at P16

spleen hypoplasia ( J:190368 )

• smaller with reduced cellular density at P16

endocrine/exocrine glands

abnormal thymus morphology ( J:190368 )

• contains numerous small vacuoles at P16

thymus hypoplasia ( J:190368 )

• smaller with reduced cellular density at P16

muscle

abnormal atrium myocardium morphology ( J:190368 )

• decrease in the density of atrial myocytes in neonates

• large translucent vacuoles are present in neonates

• extensive vacuolation is seen at 2 weeks of age

abnormal ventricle myocardium morphology ( J:190368 )

• small vacuoles are detected at 2 weeks of age