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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Slfn14em1Nvm
endonuclease-mediated mutation 1, Neil V Morgan
MGI:7286186
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Slfn14em1Nvm/Slfn14em1Nvm C57BL/6J-Slfn14em1Nvm MGI:7286192
ht2
Slfn14em1Nvm/Slfn14+ C57BL/6J-Slfn14em1Nvm MGI:7286191


Genotype
MGI:7286192
hm1
Allelic
Composition
Slfn14em1Nvm/Slfn14em1Nvm
Genetic
Background
C57BL/6J-Slfn14em1Nvm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slfn14em1Nvm mutation (0 available); any Slfn14 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mice survive to weaning
• if pups survive beyond E14.5, they die shortly after birth

cardiovascular system
• E12.5 and E14.5 embryos are much more pale, with less vascular definition




Genotype
MGI:7286191
ht2
Allelic
Composition
Slfn14em1Nvm/Slfn14+
Genetic
Background
C57BL/6J-Slfn14em1Nvm
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slfn14em1Nvm mutation (0 available); any Slfn14 mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• splenomegaly is due to extramedullary erythropoiesis, the accumulation of mature erythrocytes, and hemolytic anemia
• increase in spleen weight and size
• mice show differences in erythroid progenitors in the spleen and bone marrow, indicating upregulation of erythropoiesis
• spleen is a secondary site for erythropoiesis; intermediate progenitors (EryBs) differentiate into mature erythrocytes (EryCs), which are highly populated within the spleen, suggesting erythroid maturation from the intermediate progenitor within the spleen
• increase in the proportion of proerythroblasts in the spleen
• mice exhibit microcytic erythrocytosis, an increase in erythrocyte count accompanied by a reduction in size
• lower hemoglobin levels
• mice exhibit microcytic erythrocytosis, an increase in erythrocyte count accompanied by a reduction in size
• irregularly shaped smaller erythrocytes (poikilocytes and microcytes)
• however, no difference in leukocyte counts
• mice show a 15% increase in the proportion of CD41+ SYTO13+ cells, indicating an increase in the proportion of immature platelets
• however, mice exhibit normal platelet function in response to major agonists thrombin, collagen, and collagen-related peptide and normal platelet adhesion and spreading
• increase in platelet size
• however, no difference in platelet count is seen
• almost 3-fold increase in megakaryocyte-erythroid progenitors
• however, megakaryocyte counts in spleen are normal and the proportion of megakaryocytes is unchanged

homeostasis/metabolism
• following laser injury, mice form thrombi at a similar rate as controls, although they are smaller, with fewer platelets recruited, and embolize more quickly than in controls
• FeCl3 injury to the carotid artery results in occlusive thrombus formation as in wild-type mice, however mutants form thrombi at a slightly slower rate and have a tendency for reduced stability but not significantly
• however, mice exhibit normal bleeding times with tail tip excision and normal clot retraction

immune system
• splenomegaly is due to extramedullary erythropoiesis, the accumulation of mature erythrocytes, and hemolytic anemia
• increase in spleen weight and size

growth/size/body
• splenomegaly is due to extramedullary erythropoiesis, the accumulation of mature erythrocytes, and hemolytic anemia
• increase in spleen weight and size





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last database update
10/09/2024
MGI 6.24
The Jackson Laboratory