Figure 1.
Rpl11-haploinsufficient mice recapitulate the hematologic phenotypes of patients with DBA. (A) Relative quantitative polymerase chain reaction showing Rpl11 messenger RNA levels in nucleated cells of the peripheral blood from Rpl11+/▵ mice and WT littermates. N = 4. (B-C) Representative western blot data show Rpl11 protein level in BM cells. N = 4. The area under the peak for Rpl11 and β-actin was calculated for the expression of Rpl11 protein relative to β-actin in BM-nucleated cells from Rpl11+/▵ mice and WT littermates. (D) Complete blood counts were performed using a HEMAVET 950FS analyzer. WT N = 13, Rpl11+/▵ N = 16. (E) Quantification of eADA in blood. The concentrations were normalized to blood Hgb levels. N = 7 per group. (F) Quantification of EPO concentrations in the plasma. N = 6 per group. (G) Representative morphology of the sternum and spleen. Hematoxylin and eosin–stained sections show that the sternum of Rpl11+/▵ mice were relatively hypocellular with substantially less trabecular bones compared with WT littermates, and their spleens lost the normal architecture without normal white pulp. Immunohistochemistry-stained sections show the abnormal distribution of Ter119+ cells in the spleens of diseased mice with Rpl11+/▵ (H) Kaplan-Meier analysis shows high penetrance (100%) of disease and a lethal impact of Rpl11- haploinsufficiency on survival of diseased mice with Rpl11+/▵ induced on postnatal day 8. The median survival age was 26.5 weeks in Rpl11+/▵ mice. N = 16 per group. Statistical differences between the groups were calculated using a 2-tailed Student t test. Data are presented as the mean ± standard error of the mean. More supportive data are provided in supplemental Figure 1. eADA, erythrocyte adenosine deaminase; MCV, mean corpuscular value; PLT, platelets; WBC, white blood cell counts; wks, weeks.

Rpl11-haploinsufficient mice recapitulate the hematologic phenotypes of patients with DBA. (A) Relative quantitative polymerase chain reaction showing Rpl11 messenger RNA levels in nucleated cells of the peripheral blood from Rpl11+/▵ mice and WT littermates. N = 4. (B-C) Representative western blot data show Rpl11 protein level in BM cells. N = 4. The area under the peak for Rpl11 and β-actin was calculated for the expression of Rpl11 protein relative to β-actin in BM-nucleated cells from Rpl11+/▵ mice and WT littermates. (D) Complete blood counts were performed using a HEMAVET 950FS analyzer. WT N = 13, Rpl11+/▵ N = 16. (E) Quantification of eADA in blood. The concentrations were normalized to blood Hgb levels. N = 7 per group. (F) Quantification of EPO concentrations in the plasma. N = 6 per group. (G) Representative morphology of the sternum and spleen. Hematoxylin and eosin–stained sections show that the sternum of Rpl11+/▵ mice were relatively hypocellular with substantially less trabecular bones compared with WT littermates, and their spleens lost the normal architecture without normal white pulp. Immunohistochemistry-stained sections show the abnormal distribution of Ter119+ cells in the spleens of diseased mice with Rpl11+/▵ (H) Kaplan-Meier analysis shows high penetrance (100%) of disease and a lethal impact of Rpl11- haploinsufficiency on survival of diseased mice with Rpl11+/▵ induced on postnatal day 8. The median survival age was 26.5 weeks in Rpl11+/▵ mice. N = 16 per group. Statistical differences between the groups were calculated using a 2-tailed Student t test. Data are presented as the mean ± standard error of the mean. More supportive data are provided in supplemental Figure 1. eADA, erythrocyte adenosine deaminase; MCV, mean corpuscular value; PLT, platelets; WBC, white blood cell counts; wks, weeks.

This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal