Phenotypes associated with this allele

• Allele Symbol: Shoc2^tm1.1Mhan
• Allele Name: targeted mutation 1.1, Min Han
• Allele ID: MGI:4459449
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Shoc2^tm1.1Mhan/Shoc2^tm1.1Mhan	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4459451
cn2	Shoc2^tm1.1Mhan/Shoc2^tm1.2Mhan Tg(Tek-cre)#Xya/0	involves: 129S6/SvEvTac * BALB/c * C57BL/6 * Kunming	MGI:4459509

Genotype
MGI:4459451

hm1

• Allelic Composition: Shoc2^tm1.1Mhan/Shoc2^tm1.1Mhan
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

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

normal phenotype

no abnormal phenotype detected ( J:161211 )

• mice are born at normal Mendelian ratios, are viable and fertile and display no gross abnormalities

Genotype
MGI:4459509

cn2

• Allelic Composition: Shoc2^tm1.1Mhan/Shoc2^tm1.2Mhan; Tg(Tek-cre)#Xya/0
• Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6 * Kunming

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:161211 )

• no viable embryos are found at E15.5

embryonic lethality during organogenesis, incomplete penetrance ( J:161211 )

• embryos appear viable at E11.5, but from E12.5-14.5 some embryos exhibit hemorrhage and edema; death occurs at or after E13.5

cardiovascular system

cardiovascular system phenotype ( J:161211 )

N • mutants and controls show similar vascular patterns at E10.5 and endothelial cells are surrounded by vascular smooth muscle cells, similar to controls, suggesting that blood vessel maturation and integrity during development aren't compromised

right aortic arch ( J:161211 )

• observed at E13.5 and 14.5

pulmonary vascular congestion ( J:161211 )

• observed in most embryos at E14.5

abnormal cardiovascular development ( J:161211 )

abnormal cardiac epithelial to mesenchymal transition ( J:161211 )

• endothelial-mesenchymal transition within the atrioventricular canal is abnormal in mutants with AVC endothelial cells displaying less expansion in E9.5 cushion explant cultures and less (about 50%) transformed mesenchymal cells detected compared to controls

• atrioventricular canal mesenchymal cells in explant cultures show significantly reduced proliferation compare to controls at E11.5

decreased atrioventricular cushion size ( J:161211 )

• at E11.5, atrioventricular cushion volumes are about 40.8% smaller than controls, but cell density of AV cushions are comparable to controls

• outflow tract cushions do not show significant size difference from controls

abnormal atrioventricular valve development ( J:161211 )

• valves are underdeveloped in mutants, with enlarged bulbous primordial leaflets

abnormal semilunar valve development ( J:161211 )

• outlflow tract valves in all mutants are asymmetrically aligned in contrast to controls

double outlet right ventricle ( J:161211 )

• observed at E13.5 and 14.5

transposition of great arteries ( J:161211 )

• observed at E13.5 and 14.5

ventricular septal defect ( J:161211 )

• at E13.5 and 14.5 ventricular septal defects are observed

hemorrhage ( J:161211 )

• some sporadic hemorrhages are observed at E12.5

embryo

embryo phenotype ( J:161211 )

N • placental size and structure is comparable at E13.5 between mutants and controls

embryonic growth retardation ( J:161211 )

• embryos display smaller body size compared to wild-type littermates at E13.5

growth/size/body

embryonic growth retardation ( J:161211 )

• embryos display smaller body size compared to wild-type littermates at E13.5

homeostasis/metabolism

skin edema ( J:161211 )

• at E14.5, about half of the embryos exhibit severe dorsal subcutaneous edema

respiratory system

pulmonary vascular congestion ( J:161211 )

• observed in most embryos at E14.5

integument

skin edema ( J:161211 )

• at E14.5, about half of the embryos exhibit severe dorsal subcutaneous edema