Phenotypes Associated with This Genotype

Genotype
MGI:3836436

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe; Tg(Cdh5-cre)1Spe/0
• Genetic Background: involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:145700 )

• 65% of embryos die between E12.5 and E15.5

hematopoietic system

anemia ( J:145700 )

• 10% of E12.5 embryos have a pale liver due to anemia

abnormal hematopoietic stem cell morphology ( J:145700 )

• hematopoietic stem cell first derive as clusters of Kit^high cells from the endothelium of dorsal aorta and vitelline and umbilical arteries of E10.5 conceptus

• these clusters are absent in mutant E10.5 conceptus and there is a 90-fold decrease in the Kit^high cells

decreased hematopoietic stem cell number ( J:145700 )

• there is about a 8-fold decrease in CFUs from the yolk sac, vitelline and umbilical arteries, placenta and fetal liver

• over 99% of the CFUs that do develop in culture have one functional Runx1 allele

• decreased hematopoietic stem cell numbers are reflected in poor engraftment of mutant bone marrow cells into irradiated recipients

• CFUs cultured from bone marrow of transplant recipients are much reduced compared to controls and over 99% also have one functional Runx1 allele

cardiovascular system

internal hemorrhage ( J:145700 )

• 10% of E12.5 embryos have hemorrhaging within the central nervous system

liver/biliary system

pale liver ( J:145700 )

• 10% of E12.5 embryos have a pale liver due to anemia