Mouse Genome Informatics
hm
    Juptm1Ruiz/Juptm1Ruiz
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Blood supply, particularly of liver and placenta, is reduced in Juptm1Ruiz/Juptm1Ruiz mice at E12

mortality/aging
• 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

embryogenesis
• spongiotrophoblast of the placenta is poorly supplied with blood
• spongiotrophoblast of the placenta is reduced in size
• evident beginning at E12

growth/size
• evident beginning at E12

cardiovascular system
• heart rupture in the ventricles
• morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions
• desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis
• blood supply, particularly of liver and placenta, is reduced
• pericardial cavities are frequently swollen and filled with blood
• amplitude of heart contraction is strongly reduced

muscle
• morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions
• desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis
• amplitude of heart contraction is strongly reduced

liver/biliary system
• at P14, liver parenchyme shows intital signs of deterioration

homeostasis/metabolism
• pericardial cavities are frequently swollen and filled with blood

integument
• pale due to decreased blood flow to liver and placenta

Mouse Models of Human Disease
OMIM IDRef(s)
Naxos Disease 601214 J:64280