Phenotypes Associated with This Genotype

Genotype
MGI:2176468

• Allelic Composition: Gata2^tm1Sho/Gata2^tm1Sho
• Genetic Background: 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:20316 )

• homozygotes are viable at E9.5; however, none survive beyond E11.5

• 67% of homozygotes are dead at E10.5

embryo

absent vitelline blood vessels ( J:20316 )

• at E10.5, homozygotes exhibit nearly empty vitelline vessels

pale yolk sac ( J:20316 )

• at E10.5, mutant yolk sacs are very pale

abnormal embryonic hematopoiesis ( J:20316 )

• primitive hematopoiesis in the yolk sac is significantly reduced leading to severe anemia and death by E10-E11

hematopoietic system

abnormal embryonic hematopoiesis ( J:20316 )

• primitive hematopoiesis in the yolk sac is significantly reduced leading to severe anemia and death by E10-E11

anemia ( J:20316 )

• at E9.5, homozygotes appear anatomically normal but are severely anemic

• total number of blood cells from embryo and yolk sac bleeding is reduced 2- to 7-fold

impaired hematopoiesis ( J:20316 )

• analysis of chimeras generated with mutant ES cells and in vitro differentiation of mutant ES cells indicates a severe deficit in definitive hematopoietic stem or progenitor cells, associated with poor expansion of the cellular pool in response to hematopoietic growth factors

cardiovascular system

absent vitelline blood vessels ( J:20316 )

• at E10.5, homozygotes exhibit nearly empty vitelline vessels

enlarged pericardium ( J:20316 )

• at E10.5, homozygotes display enlarged pericardial sacs

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:93820 )

N • at E10.5, homozygotes display no morphological defects in the otic vesicles, suggesting normal inner ear morphogenesis prior to death