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Phenotypes Associated with This Genotype
Genotype
MGI:3811151
Allelic
Composition
Vhltm1Mcs/Vhltm1Mcs
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Vhltm1Mcs mutation (0 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• spleen weight is slightly increased and further increased following treatment with phenylhydrazine compared to in similarly treated wild type mice

mortality/aging
• slightly fewer than expected mice are born

hematopoietic system
N
• despite increased red blood cell counts, mice exhibit normal reticulocyte and platelet counts and normal bone marrow
• 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
• 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 2-fold in the spleen
• 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
• 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
• the spleen is darker than in wild-type mice
• spleen weight is slightly increased and further increased following treatment with phenylhydrazine compared to in similarly treated wild type mice

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

immune system
• the spleen is darker than in wild-type mice
• spleen weight is slightly increased and further increased following treatment with phenylhydrazine compared to in similarly treated wild type mice

neoplasm
N
• mice do not exhibit a predisposition to tumor formation

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory