All Phenotypes Abcg5<trac> MGI Mouse

premature death ( J:157223 )

• progressive decline and death by 4 to 6 months of age

• mean lifespan is shortened

• sperm are present in testicular tubules but only a few degenerate sperm are seen in the epididymis (spermatic abiotrophy)

female infertility ( J:157223 )

• females are infertile

• however, when ovaries are transferred to ovarectomized immunodeficient recipients matings to wild-type mice produce heterozygous mutant pups

male infertility ( J:157223 )

hemolytic anemia ( J:157223 )

• mild regenerative hemolytic anemia

abnormal megakaryocyte morphology ( J:157223 )

• absence of a well defined demarcation membrane system with membranes taking on a spherical or bubble like appearance

• the endoplasmic reticulum is more prominent and dilated, there is a reduction in the number of alpha granules and dense bodies, and a wider peripheral zone

abnormal megakaryocyte differentiation ( J:157223 )

• bone marrow and spleen megakaryocytes most commonly underwent only one endomitosis to a ploidy of 4N

increased megakaryocyte cell number ( J:157223 )

• histologically in bone marrow, spleen and lung

• FACS analysis of 4-8 week-old mouse bone marrow shows a 4-fold increase in percentages of CD41+CD61+ megakaryocytes

• at 6 to 10 weeks of age, occasional megakaryocytes are seen in the peripheral blood

abnormal megakaryocyte progenitor cell morphology ( J:157223 )

• 2-fold increase in the number of megakaryocyte progenitors in the bone marrow at 19 to 34 weeks of age

decreased hematocrit ( J:157223 )

• in young adults

anisocytosis ( J:157223 )

• in peripheral blood smears, at 6 to 10 weeks of age

stomatocytosis ( J:157223 )

• stomatocytes are present in peripheral blood smears, at 6 to 10 weeks of age

abnormal neutrophil morphology ( J:157223 )

• increase in the percentage of neutrophils

abnormal platelet morphology ( J:157223 )

• beta-1 tubulin-stained platelets have a more intense staining and an increase in the diameter of the microtubule coils

• by TEM, an increase in the number of small, immature alpha-granules and in the numbers of mitochondria

• TEM shows the scattered remnants of rough endoplasmic reticulum normally lost during platelet maturation and absence of normal microtubular elements

abnormal platelet alpha-granule morphology ( J:157223 )

• increased number of small, immature alpha-granules per platelet

thrombocytopenia ( J:157223 )

• at 10 to 17 weeks of age, show a 20-fold reduction in platelet numbers

• however, at weaning platelet numbers are normal

increased mean platelet volume ( J:157223 )

• at 10 to 17 weeks of age, show a 3-fold increase in platelet volume

giant platelets ( J:157223 )

• at 6 to 10 weeks of age, greatly enlarged platelets are present in peripheral blood smears

decreased leukocyte cell number ( J:157223 )

• 2-fold reduction in the numbers of white blood cells

reticulocytosis ( J:157223 )

• twice the number of reticulocytes

increased erythrocyte osmotic fragility ( J:157223 )

• increase in red blood cell fragility

abnormal platelet activation ( J:157223 )

• a decrease in the platelet activation response by 11 weeks of age

decreased platelet aggregation ( J:157223 )

• at 11 weeks of age, have impaired platelet aggregation

abnormal platelet activation ( J:157223 )

• a decrease in the platelet activation response by 11 weeks of age

decreased platelet aggregation ( J:157223 )

• at 11 weeks of age, have impaired platelet aggregation

abnormal circulating lipid level ( J:157223 )

• plasma levels of plant sterols including free and esterified sitosterol, stigmasterol, brassicasterol, and campesterol are significantly elevated

abnormal circulating cholesterol level ( J:157223 )

• esterified cholesterol levels are decreased to one-half those found in plasma from littermates, although free cholesterol levels do not differ

increased bleeding time ( J:157223 )

• greatly increased bleeding times following amputation of the tail tip

cardiac fibrosis ( J:157223 )

• multifocal myocardial fibrosis

cardiomyopathy ( J:157223 )

hunched posture ( J:157223 )

• at 12 weeks of age

decreased body size ( J:157223 )