Analysis Tools
normal phenotype
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• homozygotes survive to adulthood in the absence of health problems
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Allele Symbol Allele Name Allele ID |
Ednratm2Ywa targeted mutation 2, Masashi Yanagisawa MGI:2687362 |
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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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• homozygotes survive to adulthood in the absence of health problems
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• mice do not show significantly increased systolic blood pressure on normal or high sodium diets compared to controls; BP is lower than Ednrb or Edn1 conditional knockouts on either diet
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutant mice are born at the expected Mendelian frequency and survive to adulthood in the absence of health problems
• at 6 weeks of age, mutants exhibit normal cardiac anatomy and weight, with no significant changes in histology of the right and left ventricular wall and interventricular septum relative to control mice
• when subjected to echocardiography, anesthetized 10-week-old male mutants exhibit normal cardiac contractility (as measured by peak velocity of left outflow tract (Vp), aortic velocity time integral, ejection time, and heart rate) relative to control mice
• surprisingly, in response to cardiac stress induced by 10-day infusion of angiotensin II or isoproterenol, male mutants display hypertrophic and contractile responses similar to those observed in control mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• during initial 2 days of water loading, mutants show body weight increase of 0.7 grams compared to 0.6 grams in controls, while after 6 days of water loading, mutants gain 1.1 grams compared to 1 gram for controls (no significant difference)
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• plasma AVP levels are significantly greater than controls
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• after acute water loading, mutants show a more rapid drop in urine osmolality in the initial 2 hours, then osmolality normalizes sooner than in control
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| N |
• urine volume, urine or plasma osmolality, and plasma sodium concentration are similar to controls
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• after acute water loading, mutants show a more rapid drop in urine osmolality in the initial 2 hours, then osmolality normalizes sooner than in control
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• duplication of the ala temporalis cartilage is observed
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• at E18.5, mandible attaches to zygomatic bone by a duplicated zygomatic bone
• duplications of the palatine, pterygoid, and lamina obturans bones are present
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• most of Meckel's cartilage is missing but symphysis is present surrounded by a small amount of membranous bone
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• incisor polarity is reversed in most embryos, with teeth projecting downward
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• at E18.5, lower jaw contains mystacial vibrissae, normally only present on snout
• lower incisors are present but primarily set in mesenchyme rather than bone;in severely affected embryos, incisors are present in the flaps of soft tissue that extend down from the maxilla
• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
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• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla
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• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone
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• 25% of inci examined are undetectable but small nodules of undefined cartilage are present
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• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type
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• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present
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• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone
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• rugae (raised epithelial ridges) are present on the floor of the mouth, rather than being confined to the palate as in controls
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• tongue hypoplasia is present
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• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
|
|
• at E18.5, mandible attaches to zygomatic bone by a duplicated zygomatic bone
• duplications of the palatine, pterygoid, and lamina obturans bones are present
|
|
• most of Meckel's cartilage is missing but symphysis is present surrounded by a small amount of membranous bone
|
|
• incisor polarity is reversed in most embryos, with teeth projecting downward
|
|
• at E18.5, lower jaw contains mystacial vibrissae, normally only present on snout
• lower incisors are present but primarily set in mesenchyme rather than bone;in severely affected embryos, incisors are present in the flaps of soft tissue that extend down from the maxilla
• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
|
|
• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla
|
|
• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone
|
|
• 25% of inci examined are undetectable but small nodules of undefined cartilage are present
|
|
• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type
|
|
• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present
|
|
• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone
|
|
• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone
|
|
• 25% of inci examined are undetectable but small nodules of undefined cartilage are present
|
|
• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type
|
|
• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present
|
|
• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone
|
|
• tongue hypoplasia is present
|
|
• incisor polarity is reversed in most embryos, with teeth projecting downward
|
|
• rugae (raised epithelial ridges) are present on the floor of the mouth, rather than being confined to the palate as in controls
|
|
• tongue hypoplasia is present
|
|
• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• at E18.5, lower jaw appears normal; no defects in mandible structure are observed
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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 04/23/2024 MGI 6.23 |
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