Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps15l1tm1.1Noff mutation
(0 available);
any
Eps15l1 mutation
(80 available)
Eps15tm1c(KOMP)Wtsi mutation
(0 available);
any
Eps15 mutation
(66 available)
Tg(Tek-cre)1Ywa mutation
(6 available)
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hematopoietic system
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• newborn mice show a significant reduction of MCV in peripheral blood
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• newborn mice show a significant increase in RBC distribution width
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• May-Grunwald-Giemsa staining of blood smears from newborn mice indicates presence of anisotropic RBCs
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• May-Grunwald-Giemsa staining revealed a significant increase in reticulocyte number
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cardiovascular system
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• mice exhibit only a mild vascular defect
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps15l1tm2.1Noff mutation
(0 available);
any
Eps15l1 mutation
(80 available)
Eps15tm1c(KOMP)Wtsi mutation
(0 available);
any
Eps15 mutation
(66 available)
Tg(Tek-cre)1Ywa mutation
(6 available)
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hematopoietic system
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• maturation of RBCs is impaired
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• Perls' Prussian blue staining suggests increased erythropoiesis in the spleen of adult mice
• however, no tissue iron overload is observed in the spleen or liver
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• adult mice are anemic as revealed by a significant reduction in all parameters analyzed (RBC, MCV, hematocrit and hemoglobin)
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• adult mice suffer from microcytic hypochromic anemia due to a cell-autonomous defect in iron internalization; o-dianisidine staining confirmed that RBCs are hypochromic
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• May-Grunwald-Giemsa staining of blood smears revealed a great variation in the size and shape of RBCs
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• mice exhibit twice as many reticulocytes (thiazole orange-positive cells) in the blood, suggesting that maturation of RBCs is impaired
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homeostasis/metabolism
cellular
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• surface transferrin receptor (TfR) expression is retained in ~50% of mature RBCs (thiazole orange-negative cells), whereas it is virtually absent (as expected) in wild-type controls
• a significantly higher fraction of thiazole orange-positive cells retain TfR surface expression relative to wild-type controls
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