Analysis Tools|
Allele Symbol Allele Name Allele ID |
Juptm1Ruiz targeted mutation 1, Patricia Ruiz MGI:1861958 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between E10.5 and E15.5 from heart defects
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• mice die between E10.5 and E15.5 from heart defects
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• mice die between E10.5 and E15.5 from heart defects
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| ♀ | 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
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• 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
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• evident beginning at E12
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• spongiotrophoblast of the placenta is poorly supplied with blood
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• spongiotrophoblast of the placenta is reduced in size
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• evident beginning at E12
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• heart rupture in the ventricles
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• morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions
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• desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis
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• blood supply, particularly of liver and placenta, is reduced
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• pericardial cavities are frequently swollen and filled with blood
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• amplitude of heart contraction is strongly reduced
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• morphology of intercalated discs is altered as they do not show differentiation of desmosomes and adherens junctions
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• desmosomes of intercalated discs are absent by E8, however desmosomes are observed in various epithelia such as the epidermis
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• amplitude of heart contraction is strongly reduced
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• at P14, liver parenchyme shows intital signs of deterioration
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• pericardial cavities are frequently swollen and filled with blood
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mouse embryonic fibroblasts isolated from embryos show a 20-fold reduction in the number of ORO stained cells, indicating resistance to adipogenesis
• despite adipogenic induction, cardiac progenitor cells are resistant to adipogenesis
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• increase in left ventricular end diastolic diameter, however left ventricular fractional shortening is preserved
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• mouse embryonic fibroblasts isolated from embryos show a 20-fold reduction in the number of ORO stained cells, indicating resistance to adipogenesis
• despite adipogenic induction, cardiac progenitor cells are resistant to adipogenesis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice survive until E10.5 and E13.5
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| N |
• mice exhibit normal lumbar motor column neuron specification, lateral migration, and segregation
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• some motor neurons fail to migrate away from the ventricular zone unlike in control mice
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• in the spinal cord medial motor column
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• mice exhibit a 2.5-fold increase in En1+ V1 interneurons and 3-fold increase in Chx10+ V2a interneurons compared to in control mice
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• mice exhibit a 3-fold increase in Chx10+ V2a interneurons compared to in control mice
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• at E11.5, mice exhibit intermixing of medial and lateral lumbar motor column neurons unlike in control mice
• at E13.5, preganglionic column neurons are scattered in ectopic ventral position unlike in control mice
• mice exhibit disorganization of intrasegmental neuron pools compared with control mice
• however, organization of rostro-caudal neurons are normal
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• Foxp1+ neurons are less densely packed than in control mice
• however, overall neuron packing is normal
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• reduced number of neurons
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• some motor neurons fail to migrate away from the ventricular zone unlike in control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice only survive until E14.5
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• at E14.5, motor neuron dendrite length and primary branch number are reduced 2- to 3-fold compared with control dendrites
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no viable pups are observed, indicating prenatal lethality
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit similar cardiovascular phenotypes as single Tg(Myh6-Jup*)1Ajm transgenic mice
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• increase in fibroadipocytes in the heart
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• reduced left ventricular fractional shortening
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• increase in left ventricular end diastolic diameter, left ventricular end systolic diameter, and left ventricular mass
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• increase in fibroadipocytes in the heart
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• reduced left ventricular fractional shortening
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| arrhythmogenic right ventricular dysplasia 12 | DOID:0110083 |
OMIM:611528 |
J:192719 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 12/10/2024 MGI 6.24 |
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