Phenotypes Associated with This Genotype

Genotype
MGI:3811151

• Allelic Composition: Vhl^tm1Mcs/Vhl^tm1Mcs
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:130780 )

• slightly fewer than expected mice are born

hematopoietic system

hematopoietic system phenotype ( J:130780 )

N • despite increased red blood cell counts, mice exhibit normal reticulocyte and platelet counts and normal bone marrow

abnormal common myeloid progenitor cell morphology ( J:130780 )

• the numbers of colony forming unit granulocyte (CFU-G), megakaryocyte (CFU-M), and granulocyte, erythrocyte, macrophage, and megakaryocyte (CFU-GEMM) from cultured splenic cells are increased 3-fold compared to in wild-type cultures

abnormal erythropoiesis ( J:130780 )

• mice exhibit a 2-fold higher percentage of circulating CD71+Ter119+ immature erythroid cells in the blood than in wild-type mice indicating enhanced erythroid differentiation

• following treatment with phenylhydrazine, mice exhibit increased erythropoiesis beyond that observed in similarly treated wild-type mice

• erythropoiesis in the spleen is increased compare to in wild-type mice

increased megakaryocyte cell number ( J:130780 )

• increased 2-fold in the spleen

increased erythroid progenitor cell number ( J:130780 )

• the number of CD71+Ter119+ erythroid precursors in the spleen is increased 6-fold compared to in wild-type mice

• spleen cells exhibit a 3.5-fold increase in the number of erythroid colonies formed compared to for cultured wild-type spleen cells

• the number of burst forming unit erythroids (BFU-Es) progenitors is increased in spleen cells compared to for wild-type spleen cells

• however, the numbers of erythroid precursors in the bone marrow and of erythroid colonies formed by cultured bone marrow cells are normal

increased erythrocyte cell number ( J:130780 )

polycythemia ( J:130780 )

increased hematocrit ( J:130780 )

• beginning at 10 to 14 weeks of age, mice exhibit elevated hematocrit levels that reach an increase of 55% compared to in wild-type mice by week 26

• following treatment with phenylhydrazine, the percent hematocrit is increased compared to in wild-type mice and continues to increased beyond normal levels following recovery

increased hemoglobin content ( J:130780 )

increased leukocyte cell number ( J:130780 )

• slightly

abnormal spleen morphology ( J:130780 )

• the spleen is darker than in wild-type mice

increased spleen weight ( J:130780 )

• spleen weight is slightly increased and further increased following treatment with phenylhydrazine compared to in similarly treated wild type mice

increased spleen red pulp amount ( J:130780 )

decreased spleen white pulp amount ( J:130780 )

cardiovascular system

increased angiogenesis ( J:130780 )

• the number of blood vessels in the skin is increased 1.3-fold compared to in wild-type mice

pulmonary hypertension ( J:130780 )

• the number of lung blood vessels congested with blood is increased compared to in wild-type mice

• however, smooth muscle cell staining is normal

liver/biliary system

abnormal liver morphology ( J:130780 )

• liver vasculature is increased compared to in wild-type mice

immune system

increased leukocyte cell number ( J:130780 )

• slightly

abnormal spleen morphology ( J:130780 )

• the spleen is darker than in wild-type mice

increased spleen weight ( J:130780 )

• spleen weight is slightly increased and further increased following treatment with phenylhydrazine compared to in similarly treated wild type mice

increased spleen red pulp amount ( J:130780 )

decreased spleen white pulp amount ( J:130780 )

neoplasm

neoplasm ( J:130780 )

N • mice do not exhibit a predisposition to tumor formation

growth/size/body

increased spleen weight ( J:130780 )

• spleen weight is slightly increased and further increased following treatment with phenylhydrazine compared to in similarly treated wild type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial erythrocytosis 2		DOID:0060474	OMIM:263400	J:130780