Analysis Tools
mortality/aging
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• most embryos die prior to E13.5
• Background Sensitivity: 100% embryonic lethal in a pure 129S/SvEv background
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Allele Symbol Allele Name Allele ID |
Ece1tm1Reh targeted mutation 1, Robert E Hammer MGI:2158947 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most embryos die prior to E13.5
• Background Sensitivity: 100% embryonic lethal in a pure 129S/SvEv background
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• those mutants that do survive to term die within 30 minutes of birth
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• Background Sensitivity: 75% embryonic lethal in a C57BL/6-129/SvEv hybrid background
• most embryos die before E13.5
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• neural crest-derived Harderian gland melanocytes are absent
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• there are no detectable melanocytes in the dorsal skin of term mutants
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• the neural crest derived melanocytes of the choroid are absent
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• interruption of the aortic arch is observed at birth (18 out of 31)
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• the right subclavian artery is absent (7 out of 31)
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• the endocardial cushions are poorly developed
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• the aorta arises from the right ventricle resulting in double outlet right ventricle (3 out of 10)
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• the aorta overrides the crest of the ventricular septum in 5 out 10 pups
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• ventricular septal defects are found in 100% (10 out of 10) of mutant embryos at birth
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• the atria are congested and dilated
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• along with dilation of the peripheral vasculature this is consistent with cardiac failure
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• peripheral vascular dilation is seen in premorbid embryos
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• the styloid process is severely deformed
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• at birth Meckel's cartilage is absent
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• the alisphenoid cone is hypoplastic and deformed
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• the squamosal bone is hypoplastic and deformed
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• at birth the mandible is markedly reduced in size
• the teeth are normal however the lower incisors are embedded in loose mesenchyme rather than the mandible
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• the palatine bone is hypoplastic and deformed
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• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
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• at birth most of the tongue is absent
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• the external auditory meatus is absent
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• at birth sublingual ducts are absent
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• at birth many of the submandibular ducts are missing
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• the parathyroid glands are hypoplastic
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• the thymus does not fully descend into the thoracic cavity
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• neural crest-derived Harderian gland melanocytes are absent
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• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
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• the external auditory meatus is absent
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• the tympanic ring is absent
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• along with dilation of the peripheral vasculature this is consistent with cardiac failure
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• generalized edema is seen in premorbid embryos
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• the thymus does not fully descend into the thoracic cavity
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• peripheral vascular dilation is seen in premorbid embryos
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• the ventral neck is sunken
• at birth fusion of the hyoid bone, thyroid cartilage and the basiphenoid bone, is seen resulting in a narrower airway
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• the styloid process is severely deformed
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• at birth Meckel's cartilage is absent
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• the alisphenoid cone is hypoplastic and deformed
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• the squamosal bone is hypoplastic and deformed
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• at birth the mandible is markedly reduced in size
• the teeth are normal however the lower incisors are embedded in loose mesenchyme rather than the mandible
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• the palatine bone is hypoplastic and deformed
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• the cartilaginous rudiment of the stapes is absent in 11 out of 14 embryos
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• the neural crest derived melanocytes of the choroid are absent
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• enteric neurons are missing from the rectum of mutants at birth
• at E12.0 enteric neurons are seen only in the proximal gut and are absent beyond the ileocecal junction
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• the palatine bone is hypoplastic and deformed
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• at birth most of the tongue is absent
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• at birth sublingual ducts are absent
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• at birth many of the submandibular ducts are missing
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• the thymus does not fully descend into the thoracic cavity
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• the atria are congested and dilated
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• the palatine bone is hypoplastic and deformed
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• at birth most of the tongue is absent
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• the external auditory meatus is absent
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• there are no detectable melanocytes in the dorsal skin of term mutants
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the branchial arch artery patterning abnormalities result in various types of great vessel malformations
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• at E12.5 in approximately 50% of embryos both right and left ductus caroticus remain
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• at E12.0 - 12.5 and E13.0 - 13.5 the right dorsal aorta remains (6 out of 13 and 6 out of 7)
• at E13.0 the connection of the right dorsal aorta to the abdominal dorsal aorta persists
• in 2 of these embryos right sided dorsal aorta is observed where left arch arteries 4 and 6 and right arch artery 4 regress, while right arch artery 6 and the right dorsal aorta persist and form the major outflow tract from the heart
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 4 shows signs of regression including decreased diameter and expression of a transgenic lacZ marker of arterial smooth muscle (11 out of 13 and 5 out of 7, respectively)
• at E12.0 - 12.5 and E13.0 - 13.5 regression of left arch artery 4 is also seen but not as frequently (7 out of 13 and 4 out of 7, respectively)
• between E11.5 and E13.5 the fourth arch arteries are diminished
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
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• at E12.0 - 12.5 in 6 out of 13 embryos right arch artery 6 abnormally persists
• at E13.0 in embryos where the right arch artery 4 regressed the right arch artery 6 persisted
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 right arch artery 3 is markedly enlarged in 6 out of 13 embryos
• at E12.5 arch arteries 3 become the dominant vessels bilaterally, accepting blood from the outflow tract
• at E12.5 the overall growth of arch arteries 3 toward the cranial direction is delayed and the external carotid fails to branch off of arch arteries 3
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• the right subclavian artery is missing or has a cervical origin in term embryos as a result of abnormal regression of right arch artery 4
• in term embryos with abnormal regression of right arch artery 4 and normal regression of the right ductus caroticus, the right dorsal aorta persists and the right subclavian artery is missing or originates from the dorsal aorta
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• double aortic arch is found in term embryos when both the right and left arch arteries 4 abnormally regress or when left arch artery 6 abnormally regresses
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• at E13.0 some embryos have extra branches from the ascending aorta
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• other outflow tract abnormalities such as overriding aorta, double outlet right ventricle, and persistent truncus arteriosus are observed
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 4 shows signs of regression including decreased diameter and expression of a transgenic lacZ marker of arterial smooth muscle (11 out of 13 and 5 out of 7, respectively)
• at E12.0 - 12.5 and E13.0 - 13.5 regression of left arch artery 4 is also seen but not as frequently (7 out of 13 and 4 out of 7, respectively)
• between E11.5 and E13.5 the fourth arch arteries are diminished
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
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• at E12.0 - 12.5 in 6 out of 13 embryos right arch artery 6 abnormally persists
• at E13.0 in embryos where the right arch artery 4 regressed the right arch artery 6 persisted
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 right arch artery 3 is markedly enlarged in 6 out of 13 embryos
• at E12.5 arch arteries 3 become the dominant vessels bilaterally, accepting blood from the outflow tract
• at E12.5 the overall growth of arch arteries 3 toward the cranial direction is delayed and the external carotid fails to branch off of arch arteries 3
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 and E13.0 - 13.5 right arch artery 4 shows signs of regression including decreased diameter and expression of a transgenic lacZ marker of arterial smooth muscle (11 out of 13 and 5 out of 7, respectively)
• at E12.0 - 12.5 and E13.0 - 13.5 regression of left arch artery 4 is also seen but not as frequently (7 out of 13 and 4 out of 7, respectively)
• between E11.5 and E13.5 the fourth arch arteries are diminished
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
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• at E12.0 - 12.5 in 6 out of 13 embryos right arch artery 6 abnormally persists
• at E13.0 in embryos where the right arch artery 4 regressed the right arch artery 6 persisted
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• in E11.5 embryos 75% (6/8) show enlargement of right arch artery 3 and relative narrowing of arch arteries 4 and 6
• this occurred more frequently on the right side (6 out of 8 than on the left 3 out of 8)
• at E12.0 - 12.5 right arch artery 3 is markedly enlarged in 6 out of 13 embryos
• at E12.5 arch arteries 3 become the dominant vessels bilaterally, accepting blood from the outflow tract
• at E12.5 the overall growth of arch arteries 3 toward the cranial direction is delayed and the external carotid fails to branch off of arch arteries 3
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Cardiac defects in Ece1tm1Reh/Ece1tm1Reh and Ece1tm1Reh/Ece1tm1Reh Ece2tm1Ywa/Ece2tm1Ywa embryos
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• malalignment of great vessels and ventricles; the alignment between aortic and pulmonary vessel outflows remains in a spiral position as in wild-type, but the aortic valve and outflow shift rostrally and to the right so that the two valves appear in the same plane
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• seen in one of ten mutants
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• seen in a few mutants
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• seen in many mutants
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• most mutants show perimembranous ventricular septal defect
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| double outlet right ventricle | DOID:6406 |
OMIM:217095 |
J:62261 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Cardiac defects in Ece1tm1Reh/Ece1tm1Reh and Ece1tm1Reh/Ece1tm1Reh Ece2tm1Ywa/Ece2tm1Ywa embryos
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• the number of alive double homozygous mutant embryos decreased after E12.5
• the ratio of double homozygous embryos that survived until birth tended to be less than that of single Ece1 homozygous mutant embryos, but this difference did not reach statistical significance
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• double homozygous mutant embryos developed cardiac abnormalities that were broader and more severe than those of single Ece1 homozygous mutant embryos
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• cardiac abnormalities included total or localized defects of the aorticopulmonary septum, which resulted in persistent truncus arteriosus or aorticopulmonary window
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• in severe cases, the endocardial cushion was hypoplastic and did not form atrioventricular valves at all
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• seen in more than half of the mutants
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• double homozygous mutant embryos displayed defects in spiraling of the conotruncal ridges and aorticopulmonary septum; these resulted in a parallel position of the aortic and pulmonary outflow tracts without crossing over each other, with the two valves observed side by side on the same transverse plane
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• atrioventricular valves opened toward a ventricular septal defect but not to the left ventricle
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• double homozygous mutant embryos frequently displayed abnormal atrioventricular valve formation, a phenotype never observed in single Ece1 homozygous mutant embryos
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• near-term or E20.0 double homozygous mutant embryos had a hypoplastic mandible
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• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae
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| N |
• double E16.0-E20.0 homozygous mutant embryos displayed defects in multiple neural crest-derived tissues, which were identical to those observed in single Ece1 homozygous mutant embryos
• at E12.5, the endothelin-1/endothelin-2 levels in whole double homozygous mutant embryos did not differ significantly from those of single Ece1 homozygous mutant embryos
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• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae
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• near-term or E20.0 double homozygous mutant embryos displayed a shrunken anterior neck
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• near-term or E20.0 double homozygous mutant embryos had a hypoplastic mandible
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• near-term or E20.0 double homozygous mutant embryos had hypoplastic pinnae
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| double outlet right ventricle | DOID:6406 |
OMIM:217095 |
J:62261 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice heterozygous for Ece1tm1Reh and homozygous for Ece2tm1Ywa were healthy and fertile, and appeared indistinguishable from Ece1tm1Reh heterozygous mutant 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 04/16/2024 MGI 6.23 |
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