Phenotypes associated with this allele

• Allele Symbol: Spta1^sph-3J
• Allele Name: spherocytosis 3 Jackson
• Allele ID: MGI:3621484
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spta1^sph-3J/Spta1^sph-3J	NOD.Cg-H2^b Spta1^sph-3J	MGI:4437828

Genotype
MGI:4437828

hm1

• Allelic Composition: Spta1^sph-3J/Spta1^sph-3J
• Genetic Background: NOD.Cg-H2^b Spta1^sph-3J

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

hematopoietic system

enlarged spleen ( J:157766 )

increased spleen weight ( J:157766 )

• massive splenomegaly results from extensive expansion of the red pulp

extramedullary hematopoiesis ( J:157766 )

• extramedullary hematopoietic foci are found in the liver

anemia ( J:157766 )

hemolytic anemia ( J:157766 )

• severe hemolytic anemia with significantly decreased red blood cell count, hemoglobin and hematocrit

abnormal erythrocyte morphology ( J:157766 )

• high numbers of large reticulocytes and small shperocytes, anisocytosis polychromatophilia due to a high degree of reticulocytosis, poikilocytosis with many bizarrely shaped cells and fragments, increased red blood cell distribution width, spherocytic red blood cells with membrane loss, and frequent irregular sphero-eliptocytes are found, consistent with the abnormal red blood cell membrane skeletal composition, which includes not only diminished alpha spectrin but also diminished beta spectrin, band 3, beta adducin, gamma adducin, and decreased alpha adducin

decreased erythrocyte cell number ( J:157766 )

• approximately one third of normal red blood cell concentration at 6 weeks of age

decreased hematocrit ( J:157766 )

• approximately one third normal level at 6 weeks of age

decreased hemoglobin content ( J:157766 )

• approximately one third the normal level of hemoglobin at 6 weeks of age

decreased mean corpuscular hemoglobin concentration ( J:157766 )

anisocytosis ( J:157766 )

anisopoikilocytosis ( J:157766 )

elliptocytosis ( J:157766 )

poikilocytosis ( J:157766 )

polychromatophilia ( J:157766 )

spherocytosis ( J:157766 )

reticulocytosis ( J:157766 )

decreased spleen iron level ( J:157766 )

immune system

enlarged spleen ( J:157766 )

increased spleen weight ( J:157766 )

• massive splenomegaly results from extensive expansion of the red pulp

decreased spleen iron level ( J:157766 )

homeostasis/metabolism

decreased spleen iron level ( J:157766 )

increased circulating bilirubin level ( J:157766 )

• twice normal levels

increased circulating iron level ( J:157766 )

• plasma iron levels are much higher than in controls

increased kidney iron level ( J:157766 )

• extensive iron accumulation in the kidney

increased liver iron level ( J:157766 )

liver/biliary system

increased liver iron level ( J:157766 )

renal/urinary system

increased kidney iron level ( J:157766 )

• extensive iron accumulation in the kidney

growth/size/body

enlarged spleen ( J:157766 )

increased spleen weight ( J:157766 )

• massive splenomegaly results from extensive expansion of the red pulp