Phenotypes Associated with This Genotype

Genotype
MGI:3588736

• Allelic Composition: Cbfb^tm1Spe/Cbfb^tm1Spe
• Genetic Background: either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:36593 )

• homozygotes die between E11.5 and E14.5

cardiovascular system

abnormal capillary morphology ( J:36593 )

• at E10.5, apoptosis and perivascular edema appear to be associated with sprouting and/or anastomosing capillaries of the affected region

hemorrhage ( J:36593 )

• at E10.5, homozygotes exhibit extensive hemorrhages predominantly in the CNS

intracranial hemorrhage ( J:36593 )

• at E11.5, homozygotes display segmental bleeds in the areas corresponding to the VII/VIII cranial nerve complex

intraventricular hemorrhage ( J:36593 )

• at E11.5, homozygotes exhibit hemorrhages in the lateral, third and fourth ventricles

spinal hemorrhage ( J:36593 )

• at E11.5, homozygotes display hemorrhagic lesions in intersegmental regions along the presumptive spinal cord

nervous system

intracranial hemorrhage ( J:36593 )

• at E11.5, homozygotes display segmental bleeds in the areas corresponding to the VII/VIII cranial nerve complex

intraventricular hemorrhage ( J:36593 )

• at E11.5, homozygotes exhibit hemorrhages in the lateral, third and fourth ventricles

spinal hemorrhage ( J:36593 )

• at E11.5, homozygotes display hemorrhagic lesions in intersegmental regions along the presumptive spinal cord

cellular

increased apoptosis ( J:36593 )

• at E10.5, homozygotes exhibit increased apoptosis in hemorrhagic lesions of the CNS and in cephalic mesodermal tissue

• apoptosis or necrosis appears to precede hemorrhaging in affected sites

homeostasis/metabolism

edema ( J:36593 )

• at E10.5, homozygotes display perivascular edema

hematopoietic system

impaired hematopoiesis ( J:36593 )

• homozygotes exhibit impaired fetal liver hematopoiesis; in contrast, primitive yolk-sac derived hematopoiesis is unaffected

• at E12.5, mutant fetal livers lack blood precursor cells in the sinusoids; instead, primary nucleated yolk-sac derived erythrocytes are present and only a few hematopoietic precursors are found

abnormal myeloblast morphology/development ( J:36593 )

• at E12.5, the number of blast-like progenitors of definitive erythroid and myeloid cells is ~100-fold lower in mutant livers relative to wild-type

decreased erythroblast number ( J:36593 )

• at E12.5, homozygotes contain severely reduced definitive erythroblasts in peripheral blood