Phenotypes associated with this allele

• Allele Symbol: Sox7^tm1.1Dsco
• Allele Name: targeted mutation 1.1, Daryl A Scott
• Allele ID: MGI:5437221
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sox7^tm1.1Dsco/Sox7^tm1.1Dsco	involves: 129S/SvEv * C57BL/6	MGI:5437223
ht2	Sox7^tm1.1Dsco/Sox7^+	B6.129-Sox7^tm1.1Dsco	MGI:5437225
ht3	Sox7^tm1.1Dsco/Sox7^+	involves: 129S/SvEv * C57BL/6	MGI:5437224
ht4	Sox7^tm1.1Dsco/Sox7^+	involves: 129/Sv * 129S/SvEv * C57BL/6 * C57BL/6J	MGI:7543483
cn5	Sox7^tm1Dsco/Sox7^tm1.1Dsco Tg(Tek-cre)1Ywa/0	involves: 129S/SvEv * C57BL/6 * SJL	MGI:7543476
cx6	Sox7^tm1.1Dsco/Sox7^+ Wnt4^tm2(EGFP/cre/ERT2)Amc/Wnt4^+	involves: 129/Sv * 129S/SvEv * C57BL/6 * C57BL/6J	MGI:7543479

Genotype
MGI:5437223

hm1

• Allelic Composition: Sox7^tm1.1Dsco/Sox7^tm1.1Dsco
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:187416 )

• almost all die between E10.5 and E14.5, rare survivors are found beyond E14.5

embryo

embryonic growth retardation ( J:187416 )

• detected in many (22 of 28) embryos at E10.5

abnormal vitelline vascular remodeling ( J:187416 )

• many (22 of 28) display failure of yolk sac remodeling at E10.5

homeostasis/metabolism

pericardial edema ( J:187416 )

• in many (17 of 28) mice at E10.5

cardiovascular system

abnormal cardiac epithelial to mesenchymal transition ( J:338879 )

• collagen gel atrioventricular canal explants from E9.5 embryos showed significantly lower numbers of migrating mesenchymal cells than wild-type explants, suggesting a decrease in endocardial-to-mesenchymal transition (EndMT)

• RNA-seq analysis of E9.5 heart tubes showed alterations in genes involved in epithelial-to-mesenchymal transition with marked downregulation of Wnt4 and, to a lesser extent, Bmp2

abnormal fetal atrioventricular canal morphology ( J:338879 )

• at E9.5, AV canals show significantly decreased Wnt4 transcript levels in the endocardium as well as reduced Bmp2 transcript levels in the myocardium

abnormal atrioventricular cushion morphology ( J:338879 )

• at E9.5/E10.5, atrioventricular (AV) endocardial cushions are hypocellular with a severe reduction in mesenchymal cell density relative to wild-type controls

• however, separation of the endocardium from the myocardium and the size of AV cushions are normal at E10.5

pericardial edema ( J:187416 )

• in many (17 of 28) mice at E10.5

growth/size/body

embryonic growth retardation ( J:187416 )

• detected in many (22 of 28) embryos at E10.5

Genotype
MGI:5437225

ht2

• Allelic Composition: Sox7^tm1.1Dsco/Sox7⁺
• Genetic Background: B6.129-Sox7^tm1.1Dsco

muscle

muscle phenotype ( J:187416 )

N • Background Sensitivity: unlike in mice on a mixed 129 and C57BL/6 background, mice backcrossed through 8 generations onto a C57BL6 background do not display congenital diaphragmatic hernia

Genotype
MGI:5437224

ht3

• Allelic Composition: Sox7^tm1.1Dsco/Sox7⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6

muscle

abnormal diaphragm morphology ( J:187416 )

• in some cases the gallbladder is fused to the underside of the anterior diaphragm

diaphragmatic hernia ( J:187416 )

• Background Sensitivity: around 14% of mice (10 of 71, age P28 to adult) on a mixed 129 and C57BL/6 background have congenital diaphragmatic hernia located directly behind the sternum in the ventral midline; hernias are not seen in mice on a congenic C57BL/6 background

• in severe cases the gallbladder and a pedunculated portion of the liver are found in the thoracic cavity

liver/biliary system

abnormal gallbladder morphology ( J:187416 )

• in some cases the gallbladder is fused to the underside of the anterior diaphragm

endocrine/exocrine glands

abnormal gallbladder morphology ( J:187416 )

• in some cases the gallbladder is fused to the underside of the anterior diaphragm

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital diaphragmatic hernia		DOID:3827	OMIM:142340 OMIM:222400 OMIM:610187	J:187416

Genotype
MGI:7543483

ht4

• Allelic Composition: Sox7^tm1.1Dsco/Sox7⁺
• Genetic Background: involves: 129/Sv * 129S/SvEv * C57BL/6 * C57BL/6J

mortality/aging

lethality during fetal growth through weaning, incomplete penetrance ( J:338879 )

• although present in normal ratios at E15.5/E16.5, heterozygotes are recovered at lower than Mendelian ratios at weaning; however, increase in lethality between E15.5/E16.5 and weaning does not reach statistical significance

cardiovascular system

cardiovascular system phenotype ( J:338879 )

N • atrioventricular (AV) endocardial cushions show no significant alterations in mesenchymal cell density at E10.5; no ventricular septal defects are identified at E15.5

Genotype
MGI:7543476

cn5

• Allelic Composition: Sox7^tm1Dsco/Sox7^tm1.1Dsco; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

mortality/aging

prenatal lethality, complete penetrance ( J:338879 )

• most embryos die prior to E15.5; two rare survivors are found at E15.5

cardiovascular system

ventricular septal defect ( J:338879 )

• one of 2 rare embryos that survived to E15.5 show a ventricular septal defect (VSD), not observed in control embryos

Genotype
MGI:7543479

cx6

• Allelic Composition: Sox7^tm1.1Dsco/Sox7⁺; Wnt4^{tm2(EGFP/cre/ERT2)Amc}/Wnt4⁺
• Genetic Background: involves: 129/Sv * 129S/SvEv * C57BL/6 * C57BL/6J

mortality/aging

lethality during fetal growth through weaning, incomplete penetrance ( J:338879 )

• although present in normal ratios at E15.5/E16.5, double heterozygotes are recovered at lower than Mendelian ratios at weaning; however, increase in lethality between E15.5/E16.5 and weaning does not reach statistical significance

cardiovascular system

atrioventricular cushion hypoplasia ( J:338879 )

• at E10.5, atrioventricular (AV) endocardial cushions are hypocellular with a significant reduction in mesenchymal cell density relative to wild-type and single heterozygous controls

ventricular septal defect ( J:338879 )

• at E15.5, three of 8 (38%) of double heterozygotes develop VSDs, not observed in wild-type or single heterozygous controls

perimembraneous ventricular septal defect ( J:338879 )

• at E15.5, two of 8 double heterozygotes develop perimembranous VSDs

muscular ventricular septal defect ( J:338879 )

• at E15.5, one of 8 double heterozygotes shows a muscular VSD