Phenotypes Associated with This Genotype

Genotype
MGI:4421775

• Allelic Composition: Smim3^tm1Anjm/Smim3⁺; Cd74^tm1Anjm/Cd74⁺; Lmo2^tm2(cre)Thr/Lmo2⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

hematopoietic system

macrocytic anemia ( J:155870 )

abnormal bone marrow cell number ( J:155870 )

• an elevated proportion of mast cells in the bone marrow

decreased bone marrow cell number ( J:155870 )

• a reduced number of cells are flushed from the femurs

• histological bone marrow sections have mild to high hypocellularity

decreased granulocyte monocyte progenitor cell number ( J:155870 )

• decreased granulocyte/macrophage colony-forming units

• by flow cytometry, a reduction in granulocyte-monocyte progenitors in the bone marrow

abnormal megakaryocyte morphology ( J:155870 )

• monolobulated megakaryocytes in the bone marrow

decreased erythroid progenitor cell number ( J:155870 )

• a decreased number of erythroid colony-forming units

abnormal megakaryocyte progenitor cell morphology ( J:155870 )

• a decreased number of megakaryocyte colony-forming units

• considerably fewer in the bone marrow by flow cytometry

abnormal blood cell morphology ( J:155870 )

• pencil shaped cells are present in blood smears

abnormal common myeloid progenitor cell morphology ( J:155870 )

• striking decrease in the common myeloid progenitor - megakaryocytic-erythroid progenitor lineage

abnormal erythropoiesis ( J:155870 )

• prominent erythroid dysplasia, dyserythropoiesis

decreased erythrocyte cell number ( J:155870 )

decreased hemoglobin content ( J:155870 )

increased mean corpuscular volume ( J:155870 )

increased red blood cell distribution width ( J:155870 )

• increase in the mean red blood cell distribution width

macrocytosis ( J:155870 )

• in bone marrow and peripheral blood

decreased granulocyte number ( J:155870 )

• total granulocyte numbers are lower in the blood

abnormal mast cell morphology ( J:155870 )

• an elevated proportion of mast cells in the bone marrow

thrombocytopenia ( J:155870 )

• modest

decreased monocyte cell number ( J:155870 )

• in the blood

decreased hematopoietic stem cell number ( J:155870 )

• in bone marrow and spleen

decreased megakaryocyte-erythroid progenitor cell number ( J:155870 )

• by flow cytometry, a reduction in megakaryocytic-erythroid progenitors in the bone marrow

immune system

decreased granulocyte number ( J:155870 )

• total granulocyte numbers are lower in the blood

abnormal mast cell morphology ( J:155870 )

• an elevated proportion of mast cells in the bone marrow

decreased monocyte cell number ( J:155870 )

• in the blood

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chromosome 5q deletion syndrome		DOID:0090016	OMIM:153550	J:155870