Phenotypes Associated with This Genotype

Genotype
MGI:5316037

• Allelic Composition: Runx1^{tm2.1(cre/Esr1*)Ims}/Runx1^tm1Medv
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

neonatal lethality ( J:182232 )

• maternal injection of 200-250 mg of 4-hydroxytamoxifen (4-OHT) on E6.5 or E7.5 rescues prenatal lethality, but pups, although born apparently normal, are unable to feed and die within 1 day of birth

embryonic lethality during organogenesis, complete penetrance ( J:182232 )

• all embryos die around E12.5

• maternal injection of 5-6 mg of 4-hydroxytamoxifen (4-OHT) on E6.5 or E7.5 to reactivate the Runx1^lacZ allele rescues 90-100% of the E12.5 lethality; similarly, a low dose of tamoxifen (2 mg) at E7.5 also results in robust (80-100%) rescue of lethality assayed at E16.5 or P0

• reactivation of the Runx1^lacZ allele with maternal tamoxifen treatment at E8.0, 8.5, 9.0, or 9.5 does not rescue the hemorrhagic or liver anemia phenotypes; pregastrulation tamoxifen injection at E5.5 does not result in embryo rescue

hematopoietic system

hematopoietic system phenotype ( J:182232 )

N • with maternal injection of high-dose tamoxifen on E7.5 to induce Runx1 reactivation, restoration of definitive hematopoiesis is observed by E16.5; FACS analyses of blood cell populations are similar to control heterozygous cells

abnormal hematopoietic system morphology/development ( J:182232 )

• tamoxifen treatment at times after E7.5 results in no rescue of definitive hematopoietic progenitor cells; only a few progenitors can be observed with tamoxifen treatment at E8.5 with none found with later treatment timepoints

anemia ( J:182232 )

• embryos exhibit severe liver anemia

cardiovascular system

hemorrhage ( J:182232 )

• embryos display a severe hemorrhagic phenotype