Phenotypes Associated with This Genotype

Genotype
MGI:3615463

• Allelic Composition: Osr1^tm1Jian/Osr1^tm1Jian
• Genetic Background: either: (involves: 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * ICR)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:104942 )

• approximately 5% survive to E15.5-17.5

embryonic lethality during organogenesis, incomplete penetrance ( J:104942 )

• most mutants embryos die between 11.5 and 12.5

embryo

absent vitelline blood vessels ( J:104942 )

• at E12, yolk sac lacks blood circulation

gonadal ridge hypoplasia ( J:104942 )

• a hypoplastic gonadal ridge is noted at E11.5

abnormal mesonephros morphology ( J:104942 )

• at E11.5, fewer mesonephric tubules are observed and the gonadal ridge is retarded

abnormal Wolffian duct morphology ( J:104942 )

• at E11.5, the Wolffian duct is often malformed or absent in the posterior trunk region

• significantly fewer mesonephric vesicles are noted at E10.5

• Wolffian duct development is already disrupted at E9.5

rudimentary Wolffian ducts ( J:104942 )

• at E10.5, disrupted or posteriorly truncated Wolffian ducts are observed

• the Wolffian duct defect is always more severe on the left side than on the right side such that the left duct is often truncated posteriorly

homeostasis/metabolism

hydrops fetalis ( J:104942 )

• embryos at late gestation show generalized edema

cardiovascular system

absent vitelline blood vessels ( J:104942 )

• at E12, yolk sac lacks blood circulation

abnormal vein morphology ( J:104942 )

• at E11.5, embryos have hypoplastic venous valves

abnormal fetal atrioventricular canal morphology ( J:104942 )

• at E15.5, atrioventricular junction is malformed

abnormal pericardium development ( J:104942 )

• at E15.5, mesothelium fails to form complete parietal pericardium

abnormal interatrial septum morphology ( J:104942 )

• septum primum does not form

common atrium ( J:104942 )

• at E15.5, embryos lack a primary atrial septum

dilated heart atrium ( J:104942 )

• at E11.5, the atria were severely dilated

• later embryos have dilated atria

abnormal interventricular septum morphology ( J:104942 )

• at E15.5, ventricular septum is malformed

abnormal blood circulation ( J:104942 )

• at E12, embryos have pooled blood in the liver and major veins

• at E11.5, blood backflow from the heart into the inflow tract is observed

renal/urinary system

increased kidney apoptosis ( J:104942 )

• at E10.5, massive cell death is noted in the nephrogenic mesenchyme

abnormal kidney development ( J:104942 )

• at E10.5 to E11.5, mutant embryos fail to initiate metanephric kidney formation

abnormal metanephric mesenchyme morphology ( J:104942 )

• at E10.5 to E11.5, no signs of metanephric mesenchyme condensation is observed

abnormal nephrogenic mesenchyme morphogenesis ( J:104942 )

• at E10.5, massive cell death is noted in the nephrogenic mesenchyme

absent metanephros ( J:104942 )

• at E15.5, all mutant embryos lack metanephric kidneys

• as a result, internal organs (e.g. pancreas and spleen) are displaced but remain morphologically normal

absent ureteric bud ( J:104942 )

• at E10.5 to E11.5, ureteric bud formation is absent

endocrine/exocrine glands

absent adrenal gland ( J:104942 )

agonadal ( J:104942 )

• at E15.5-E17.5, all surviving mutants lack gonads

absent ovary ( J:104942 )

♀

absent testes ( J:104942 )

♂

reproductive system

agonadal ( J:104942 )

• at E15.5-E17.5, all surviving mutants lack gonads

absent ovary ( J:104942 )

♀

absent testes ( J:104942 )

♂

respiratory system

abnormal lung morphology ( J:104942 )

• at E15.5, lung tissue is observed as a compressed mass

cellular

increased kidney apoptosis ( J:104942 )

• at E10.5, massive cell death is noted in the nephrogenic mesenchyme