Phenotypes associated with this allele

• Allele Symbol: Osr1^tm1Jian
• Allele Name: targeted mutation 1, Rulang Jiang
• Allele ID: MGI:3613748
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Osr1^tm1Jian/Osr1^tm1Jian	either: (involves: 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * ICR)	MGI:3615463
hm2	Osr1^tm1Jian/Osr1^tm1Jian	involves: 129S1/Sv	MGI:5294637
cx3	kavh/kavh^+ Osr1^tm1Jian/Osr1^+	mixed	MGI:5763640

Genotype
MGI:3615463

hm1

• 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

Genotype
MGI:5294637

hm2

• Allelic Composition: Osr1^tm1Jian/Osr1^tm1Jian
• Genetic Background: involves: 129S1/Sv

embryo

increased metanephric mesenchyme apoptosis ( J:117734 )

• at E10.5, increased levels of apoptosis are detected in the metanephric mesenchyme relative to heterozygous controls

• however, the levels of apoptosis in metanephric mesenchyme precursor cells are similarly low in E9.5 mutant and control embryos, indicating that apoptosis occurs after the initial metanephric mesenchyme gene expression defects

abnormal mesonephros morphology ( J:117734 )

• at E10.5, the number and size of mesonephric tubules is significantly smaller than in control embryos

• only anterior mesonephric tubules form

abnormal Wolffian duct morphology ( J:117734 )

• a decreased diameter of the nephric duct is already seen at E8.5

• at E9.5, the nephric duct is thinner and often interrupted

• at E10.5, the nephric duct fails to migrate toward the cloaca and metanephric mesenchyme, unlike in wild-type embryos

rudimentary Wolffian ducts ( J:117734 )

• at E11.5, a nephric duct is often present (on right side but not left), but smaller than normal

• the region between the aorta and nephric duct is significantly reduced

renal/urinary system

abnormal mesonephric mesenchyme morphology ( J:117734 )

• at E9.5 (but not at E8.5), significantly increased levels of apoptosis are detected in the mesenchyme surrounding anterior mesonephric tubules relative to control embryos

abnormal metanephric mesenchyme morphology ( J:117734 )

• no metanephric mesenchyme condensation is observed at E11.5, unlike in wild-type controls

increased metanephric mesenchyme apoptosis ( J:117734 )

• at E10.5, increased levels of apoptosis are detected in the metanephric mesenchyme relative to heterozygous controls

• however, the levels of apoptosis in metanephric mesenchyme precursor cells are similarly low in E9.5 mutant and control embryos, indicating that apoptosis occurs after the initial metanephric mesenchyme gene expression defects

absent metanephric mesenchyme ( J:117734 )

• at E11.5, the metanephric mesenchyme fails to form

absent metanephros ( J:117734 )

• at E10.5, several gene products required for metanephric kidney formation are not expressed in the metanephric mesenchyme region

absent ureteric bud ( J:117734 )

• at E11.5, ureteric bud formation is completely absent

cellular

increased metanephric mesenchyme apoptosis ( J:117734 )

• at E10.5, increased levels of apoptosis are detected in the metanephric mesenchyme relative to heterozygous controls

• however, the levels of apoptosis in metanephric mesenchyme precursor cells are similarly low in E9.5 mutant and control embryos, indicating that apoptosis occurs after the initial metanephric mesenchyme gene expression defects

Genotype
MGI:5763640

cx3

• Allelic Composition: kavh/kavh⁺; Osr1^tm1Jian/Osr1⁺
• Genetic Background: mixed

mortality/aging

neonatal lethality, complete penetrance ( J:226961 )

• mice die prenatally or within 24 hours of birth

prenatal lethality, incomplete penetrance ( J:226961 )

• mice die prenatally or within 24 hours of birth

renal/urinary system

absent kidney ( J:226961 )

• at P0 in all mice