Phenotypes associated with this allele

• Allele Symbol: Sox17^tm2Sjm
• Allele Name: targeted mutation 2, Sean J Morrison
• Allele ID: MGI:3717121
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Sox17^tm1Sjm/Sox17^tm2Sjm Tg(Tek-cre)12Flv/0	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka	MGI:3717920
cn2	Sox17^tm2Sjm/Sox17^+ Tg(Pdx1-cre)6Tuv/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N	MGI:6113948
cn3	Sox17^tm2Sjm/Sox17^tm2Sjm Tg(Cdh5-cre/ERT2)1Rha/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:5792803
cn4	Sox17^tm1Sjm/Sox17^tm2Sjm Tg(Mx1-cre)1Cgn/0	involves: 129/Sv * C3H * C57BL/6 * C57BL/Ka * CBA	MGI:3717921

Genotype
MGI:3717920

cn1

• Allelic Composition: Sox17^tm1Sjm/Sox17^tm2Sjm; Tg(Tek-cre)12Flv/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6 * C57BL/Ka

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:123050 )

• expected numbers of homozygotes are found at E12.5, but complete lethality is observed by E13.5

embryo

embryonic growth retardation ( J:123050 )

• at E12.5, mutants are growth retarded

abnormal embryonic hematopoiesis ( J:123050 )

• no hematopoiesis is visible in the yolk sac or embryo at E12.5

growth/size/body

embryonic growth retardation ( J:123050 )

• at E12.5, mutants are growth retarded

hematopoietic system

abnormal embryonic hematopoiesis ( J:123050 )

• no hematopoiesis is visible in the yolk sac or embryo at E12.5

Genotype
MGI:6113948

cn2

• Allelic Composition: Sox17^tm2Sjm/Sox17⁺; Tg(Pdx1-cre)6Tuv/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB/N

endocrine/exocrine glands

abnormal cystic duct morphology ( J:241569 )

• embryos show varying degrees of shortening of the cystic duct

biliary atresia ( J:241569 )

• embryos exhibit biliary atresia-like phenotypes such as epithelial deciduation and bile duct stenosis/atresia

abnormal gallbladder epithelium morphology ( J:241569 )

• epithelial deciduation in the gallbladder

abnormal gallbladder size ( J:241569 )

• embryos show varying degrees of shortening of the gallbladder

immune system

liver inflammation ( J:241569 )

• hepatitis in fetuses with normal or mild gallbladder abnormalities but not hepatitis in fetuses with complete lack of the gallbladder

liver/biliary system

abnormal cystic duct morphology ( J:241569 )

• embryos show varying degrees of shortening of the cystic duct

biliary atresia ( J:241569 )

• embryos exhibit biliary atresia-like phenotypes such as epithelial deciduation and bile duct stenosis/atresia

abnormal gallbladder epithelium morphology ( J:241569 )

• epithelial deciduation in the gallbladder

abnormal gallbladder size ( J:241569 )

• embryos show varying degrees of shortening of the gallbladder

liver inflammation ( J:241569 )

• hepatitis in fetuses with normal or mild gallbladder abnormalities but not hepatitis in fetuses with complete lack of the gallbladder

abnormal liver morphology ( J:241569 )

• 4/55 embryos exhibit severe gross hepatic lesions

cholestasis ( J:241569 )

• bile duct stenosis

Genotype
MGI:5792803

cn3

• Allelic Composition: Sox17^tm2Sjm/Sox17^tm2Sjm; Tg(Cdh5-cre/ERT2)1Rha/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

cardiovascular system

abnormal artery morphology ( J:234137 )

• under prolonged angiotensin II (AT II) infusion, tamoxifen treated mice show luminal dilation, wall thinning, and decreased vascular smooth muscle layers at multiple vascular locations around the distal intracerebral bifurcation of intracerebral arteries

• under AT II infusion, endothelial junctions of intracerebral arteries from tamoxifen treated mice are severely disrupted

• under AT II infusion, intracerebral arteries from tamoxifen treated mice show infrequent focal endothelial denudation

abnormal abdominal aorta morphology ( J:234137 )

• under moderate AT II infusion, abdominal aorta of tamoxifen treated mice shows a modest decrease in wall thickness but does not show luminal dilation

abnormal thoracic aorta morphology ( J:234137 )

• under moderate AT II infusion, thoracic aorta of tamoxifen treated mice shows a modest decrease in wall thickness but does not show luminal dilation

aortic dissection ( J:234137 )

• tamoxifen treated mice under AT II infusion occasionally exhibit arterial dissection on the walls of intracranial arteries

abnormal blood vessel endothelium morphology ( J:234137 )

• under AT II infusion, endothelial layers in vessels of tamoxifen treated mice exhibit an abnormal lateral morphology with an irregular and flattened shape

abnormal vascular smooth muscle morphology ( J:234137 )

• arteries from tamoxifen treated mice have less coverage by vascular smooth muscle cells

aneurysm ( J:234137 )

• about 25% of tamoxifen treated mice show abnormally enlarged structure with tortuosity resembling fusiform dilation or a balloon-like structure indicative of saccular aneurysm

• 60% of tamoxifen treated mice subjected to a moderate hypertensive condition by infusion with a low dose of angiotensin II (AT II) exhibit features of intracranial aneurysm, showing vascular enlargement of intracerebral arteries, luminal dilation, and wall thinning

hemorrhage ( J:234137 )

• tamoxifen treated mice under AT II infusion frequently exhibit hemorrhage in cerebrospinal fluid, in the intracranial region, and in the intramural region

• hemorrhage is infrequently seen in mutants under steady state conditions

increased vascular permeability ( J:234137 )

• under AT II infusion, intracerebral arteries from tamoxifen treated mice show increased stress-induced leakage of intravenously infused Evans blue dye

cellular

decreased endothelial cell proliferation ( J:234137 )

• AT II-induced endothelial proliferation is suppressed in the vessels of tamoxifen treated mice

muscle

abnormal vascular smooth muscle morphology ( J:234137 )

• arteries from tamoxifen treated mice have less coverage by vascular smooth muscle cells

Genotype
MGI:3717921

cn4

• Allelic Composition: Sox17^tm1Sjm/Sox17^tm2Sjm; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129/Sv * C3H * C57BL/6 * C57BL/Ka * CBA

mortality/aging

postnatal lethality, complete penetrance ( J:123050 )

• death of all mice by 14 days after birth

hematopoietic system

thymus hypoplasia ( J:123050 )

• mice display severe reduction in thymus cellularity upon examination at 4-5 days after end of poly(I:C) treatment

decreased bone marrow cell number ( J:123050 )

• when sacrificed 4-5 days after end of poly(I:C) treatment, reduced bone marrow cellularity is observed

thrombocytopenia ( J:123050 )

• numbers are significantly reduce compared to controls following cre induction

decreased leukocyte cell number ( J:123050 )

• numbers are significantly reduce compared to controls following cre induction

decreased hematopoietic stem cell number ( J:123050 )

• HSCs are reduced in bone marrow and spleen

spleen hypoplasia ( J:123050 )

• when sacrificed 4-5 days after end of poly(I:C) treatment, reduced spleen cellularity is observed

immune system

thymus hypoplasia ( J:123050 )

• mice display severe reduction in thymus cellularity upon examination at 4-5 days after end of poly(I:C) treatment

decreased leukocyte cell number ( J:123050 )

• numbers are significantly reduce compared to controls following cre induction

spleen hypoplasia ( J:123050 )

• when sacrificed 4-5 days after end of poly(I:C) treatment, reduced spleen cellularity is observed

endocrine/exocrine glands

thymus hypoplasia ( J:123050 )

• mice display severe reduction in thymus cellularity upon examination at 4-5 days after end of poly(I:C) treatment