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Phenotypes Associated with This Genotype
Genotype
MGI:2181385
Allelic
Composition
Juptm1Ruiz/Juptm1Ruiz
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Juptm1Ruiz mutation (1 available); any Jup mutation (138 available)
phenotype observed in females
phenotype observed in males
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

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

growth/size/body
• 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 ID Ref(s)
Naxos Disease; NXD 601214 J:64280


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory