Phenotypes Associated with This Genotype

Genotype
MGI:7279138

• Allelic Composition: Sf3b1^tm1Hko/Sf3b1⁺
• Genetic Background: Not Specified

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

behavior/neurological

hypoactivity ( J:324276 )

• some mice start to show a decline in overall activity after 12 months of age, showing reduced movements and difficulty walking

hematopoietic system

extramedullary hematopoiesis ( J:324276 )

• extramedullary hematopoiesis in the spleen, with hematopoietic elements, increased megakaryocytes with hyperchromatic nuclei, increased hemosiderin deposits and signs of fibrosis

• however, no hepatomegaly or microscopic abnormalities in the liver are seen

macrocytic anemia ( J:324276 )

abnormal bone marrow cell morphology/development ( J:324276 )

• bone marrow cells show dyserythropoietic features including nuclear budding or nuclear irregularity

• occasionally ring sideroblasts are seen in the bone marrow

decreased erythrocyte cell number ( J:324276 )

• mice tend to have lower red blood cell levels at 6, 8, 9, 11, and 12 months but statistically significant difference is seen at 11 and 12 months

decreased hemoglobin content ( J:324276 )

• mice tend to have lower hemoglobin levels at 6, 8, 9, 11, and 12 months but statistically significant difference is seen at 11 months

increased mean corpuscular volume ( J:324276 )

• mice exhibit higher mean corpuscular volume at 6 to 12 months of age, indicating macrocytic anemia

thrombocytosis ( J:324276 )

• platelet counts increase at 6 months until 12 months of age with a significant difference at 10 months

increased spleen red pulp amount ( J:324276 )

• spleen shows expansion of the red pulp

immune system

increased spleen red pulp amount ( J:324276 )

• spleen shows expansion of the red pulp

reproductive system

reduced fertility ( J:324276 )

• fertility of breeding pairs drops dramatically after 6 months of age and no progeny is produced by mice of this age or older

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:324276