Phenotypes Associated with This Genotype

Genotype
MGI:2181385

• Allelic Composition: Jup^tm1Ruiz/Jup^tm1Ruiz
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Blood supply, particularly of liver and placenta, is reduced in Jup^tm1Ruiz/Jup^tm1Ruiz mice at E12

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:64280 )

• death between E12 and E16, although a few survive to E16-E18; these are swollen and covered with edemas and have blood retention in kidney and liver

embryo

embryonic growth retardation ( J:64280 )

• evident beginning at E12

abnormal spongiotrophoblast layer morphology ( J:64280 )

• spongiotrophoblast of the placenta is poorly supplied with blood

decreased spongiotrophoblast size ( J:64280 )

• spongiotrophoblast of the placenta is reduced in size

growth/size/body

embryonic growth retardation ( J:64280 )

• evident beginning at E12

cardiovascular system

abnormal heart morphology ( J:64280 )

• heart rupture in the ventricles

abnormal intercalated disk morphology ( J:64280 )

• morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions

absent cardiac desmosomes ( J:64280 )

• desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis

abnormal blood circulation ( J:64280 )

• blood supply, particularly of liver and placenta, is reduced

hemopericardium ( J:64280 )

• pericardial cavities are frequently swollen and filled with blood

abnormal cardiac muscle contractility ( J:64280 )

• amplitude of heart contraction is strongly reduced

increased heart rate ( J:64280 )

muscle

abnormal intercalated disk morphology ( J:64280 )

• morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions

absent cardiac desmosomes ( J:64280 )

• desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis

abnormal cardiac muscle contractility ( J:64280 )

• amplitude of heart contraction is strongly reduced

liver/biliary system

abnormal liver morphology ( J:64280 )

• at P14, liver parenchyme shows intital signs of deterioration

homeostasis/metabolism

hemopericardium ( J:64280 )

• pericardial cavities are frequently swollen and filled with blood

integument

pallor ( J:64280 )

• pale due to decreased blood flow to liver and placenta