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Allele Symbol Allele Name Allele ID |
Hey1tm1Gess targeted mutation 1, Manfred Gessler MGI:3043217 |
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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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• homozygotes are healthy and fertile and no major developmental defects have been seen in any of the organ systems (somites, kidney, heart atria, and nervous tissue) known to prominently express Hey1 during development
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Background Sensitivity: on a mixed background 89% survive to weaning compared to less than 5% survival on a congenic C57BL/6 background
• most mice that die, fail to thrive and die within a few days of birth
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• atrioventricular canal explants from E9.5 embryos have a slight reduction in the number of outgrowing cells and a strong reduction in the number of fully transformed, elongated mesenchymal cells indicating impaired epithelial to mesenchymal transition
• impairment is less severe than in Notch1tm2Agt homozygotes
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• outflow tract cushion sizes are normal but cell density is reduced by 37%, compared to controls
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• at E11.5 atrioventricular cushion sizes are normal but cell density is reduced by 31% compared to controls
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• Background Sensitivity: by E15.5, dysplastic atrioventricular valves are present in 13% of mice on a mixed background compared to 53% of mice on a congenic C57BL/6 background
• dysplasia is more pronounced in newborns
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• Background Sensitivity: incidence of ventricular septal defects is decreased on a mixed background (21%) compared to mice on a congenic C57BL/6 background (82%)
• at E13.5 20 of 25 mice had failed to closed the ventricular septum as a result of absence of the membranous septum
• however, the muscular portion of the septum is unaffected
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• thickened valves are prone to insufficiency and blood flow obstruction
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• pronounced thickening
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• ventricular hypertrophy
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by P21 - P28 far fewer mutants are found than expected
• adult mutants also display additional adult lethality from an unknown caus
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• embryonic survival is reduced by 60% compared to wild-type of Hey1tm1Gess homozygous littermates
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no double homozygous embryos survive and all show abnormalities by E10.5
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• reduction in expression of arterial specific markers suggests impaired arterial cell fate specification in double homozygotes
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• the dorsal aortae are frequently reduced or missing on one or both sides of double homozygous embryos probably as a result of impaired aortic wall formation
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• intersomitic vessels formed by angiogenetic sprouting do form but appear less organized than in controls
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• at E10.5 no embryonic blood vessels can be detected in the labyrinthine layer
• however, embryonic vessels are seen in the allantois and chorionic plate
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• the cardinal veins are frequently reduced or missing on one or both sides of double homozygous embryos
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• vascular patterning is coarse especially in the head with many truncated vessels without finely branched trees
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• at E9.5 the heart lacks trabeculae
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• at E9.5 the heart has initiated looping but the myocardium is much thinner
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• at E9.5 - E10.5 the ventricular portion of the heart does not fully enlarge however contractions and blood circulation appear to occur
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• at E10.5 balloon like pericardial sacs are seen in homozygous mutants
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• at E9.5 evidence of hemorrhage can be seen
• at E10.5 massive hemorrhage is seen in the head, trunk, and pericardial cavity of homozygous mutants
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• at E9.5 double homozygous embryos appear developmentally retarded
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• at E9.5 the neural tube is thinner and the surrounding mesenchymal cells appear sparse
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• somite formation ceases after E9.5 after 21-26 somites although the somites that do form are normal in size and shape
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• at E10.5 the labyrinthine layer lacks fetal blood circulation and appears very cell-rich without the intermingling of maternal and embryonic blood spaces seen in controls
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• at E10.5 no embryonic blood vessels can be detected in the labyrinthine layer
• however, embryonic vessels are seen in the allantois and chorionic plate
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• formation of an umbilical cord is initiated; however, after E9.5 the connection between embryo and placenta does not mature into a thicker umbilical cord
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• at E9.5 the primitive vascular plexus is present but fails to remodel and by E10.5 is unchanged or degenerating
• by E11.5 when most double homozygous embryos are necrotic no vasculature is left in the yolk sac
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• at E9.5 the heart lacks trabeculae
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• at E9.5 the heart has initiated looping but the myocardium is much thinner
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• at E9.5 the neural tube is thinner and the surrounding mesenchymal cells appear sparse
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• at E9.5 double homozygous embryos appear developmentally retarded
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice exhibit normal numbers of TrkC+ sensory neurons in the dorsal root ganglia
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit an increased in the number of TrkC+ sensory neurons in the dorsal root ganglia compared with wild-type mice
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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 06/12/2024 MGI 6.13 |
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