Phenotypes Associated with This Genotype

Genotype
MGI:6148308

• Allelic Composition: Rps14^tm1.1Ble/Rps14⁺; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: C57BL/6J * C57BL/6NTac * CBA/J

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

hematopoietic system

hematopoietic system phenotype ( J:233322 )

N • white blood cell count at age 18 months

enlarged spleen ( J:233322 )

• at age 18 months

impaired hematopoiesis ( J:233322 )

• progressive anemia, with severe drop in reticulocyte count from 550 days of age, resulting in death of some mice

• impaired erythropoiesis at transition from CD71+ Ter119+ basophilic and early chromatophilic erythroblasts (RII stage) to intermediate-CD71 Ter119+ polychromatophilic (RIII) to low-CD71 Ter119+ orthochromatophilic erythroblasts and enucleated erythrocytes (RIV) at age 18 months

• impaired differentiation at RIIIRIV stage transition with a decrease in quiescence of cells in RI stage population at 22 weeks of age

• development of more severe anemia and delayed reticulocyte response after induction of acute hemolytic stress with phenylhydrazine

• RI stage population (CD71+ Ter119-) significantly increased and RIV stage population (low-CD71 high-Ter119) significantly decreased after induction of acute hemolytic stress with phenylhydrazine

• terminal erythroid differentiation defect

• failure of hematopoietic stem and progenitor cells (HSPCs) to differentiate after 5 days culture in vitro

abnormal megakaryocyte morphology ( J:233322 )

• substantially increased numbers of hypolobulated micro-megakaryocytes at age 18 months

abnormal erythroid progenitor cell morphology ( J:233322 )

• significant reduction in protein synthesis according to O-propargyl-puromycin (OP-puro) incorporation assay

thrombocytosis ( J:233322 )

• mild, in peripheral blood smears at age 18 months

abnormal platelet shape ( J:233322 )

• dysplasia in peripheral blood smears at age 18 months

abnormal bone marrow cell physiology ( J:233322 )

• diffuse hemosiderin deposits at age 18 months

cellular

decreased telomere length ( J:233322 )

• significantly shorter telomeres in bone marrow cells

abnormal cell cycle ( J:233322 )

• significantly smaller percentage of bone marrow long-term hematopoietic stem cells (LT-HSCs) in G0 phase

• significantly higher percentage of LT-HSCs in G1 and S-G2-M phases

increased apoptosis ( J:233322 )

• in RIII (intermediate-CD71 Ter119+) erythroblasts

abnormal translation ( J:233322 )

• significant reduction in protein synthesis in bone marrow according to O-propargyl-puromycin (OP-puro) incorporation assay

skeleton

abnormal bone marrow morphology ( J:233322 )

• significantly increased frequency of long-term hematopoietic stem cells (LT-HSCs; lineage-low c-Kit+ Sca1+ CD48- CD150+) and multipotent progenitor cells (MPPs; lineage-low c-Kit+ Sca1+ CD48+ CD150-) in bone marrow at age 18 months

• diffuse hemosiderin deposits at age 18 months

• slightly decreased cellularity at age 18 months

• substantially increased numbers of hypolobulated micro-megakaryocytes at age 18 months

immune system

enlarged spleen ( J:233322 )

• at age 18 months

homeostasis/metabolism

abnormal translation ( J:233322 )

• significant reduction in protein synthesis in bone marrow according to O-propargyl-puromycin (OP-puro) incorporation assay

growth/size/body

enlarged spleen ( J:233322 )

• at age 18 months