Phenotypes associated with this allele

• Allele Symbol: Ednra^tm2Ywa
• Allele Name: targeted mutation 2, Masashi Yanagisawa
• Allele ID: MGI:2687362
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ednra^tm2Ywa/Ednra^tm2Ywa	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:2687390
cn2	Ednra^tm2Ywa/Ednra^tm2Ywa Tg(AQP2-cre)2Dek/0	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:3695305
cn3	Ednra^tm2Ywa/Ednra^tm2Ywa Tg(Myh6-cre)2182Mds/0	involves: 129S6/SvEvTac * C57BL/6J * FVB/N	MGI:2687389
cn4	Ednra^tm2Ywa/Ednra^tm2Ywa Tg(Aqp2-cre)1Dek/0	involves: 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3714397
cn5	Ednra^tm2Ywa/Ednra^tm2Ywa H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: C57BL/6J * CBA/J	MGI:3849287
cn6	Ednra^tm2Ywa/Ednra^tm2Ywa Tg(Hand2-cre)7-1Clou/0	involves: C57BL/6J * SJL	MGI:3849288

Genotype
MGI:2687390

hm1

• Allelic Composition: Ednra^tm2Ywa/Ednra^tm2Ywa
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:86476 )

• homozygotes survive to adulthood in the absence of health problems

Genotype
MGI:3695305

cn2

• Allelic Composition: Ednra^tm2Ywa/Ednra^tm2Ywa; Tg(AQP2-cre)2Dek/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

cardiovascular system

cardiovascular system phenotype ( J:116002 )

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

normal phenotype

no abnormal phenotype detected ( J:116002 )

Genotype
MGI:2687389

cn3

• Allelic Composition: Ednra^tm2Ywa/Ednra^tm2Ywa; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N

normal phenotype

no abnormal phenotype detected ( J:86476 )

• 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

Genotype
MGI:3714397

cn4

• Allelic Composition: Ednra^tm2Ywa/Ednra^tm2Ywa; Tg(Aqp2-cre)1Dek/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:101241 )

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)

increased circulating antidiuretic hormone level ( J:101241 )

• plasma AVP levels are significantly greater than controls

abnormal urine osmolality ( J:101241 )

• 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

renal/urinary system

renal/urinary system phenotype ( J:101241 )

N • urine volume, urine or plasma osmolality, and plasma sodium concentration are similar to controls

abnormal urine osmolality ( J:101241 )

• 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

Genotype
MGI:3849287

cn5

• Allelic Composition: Ednra^tm2Ywa/Ednra^tm2Ywa; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: C57BL/6J * CBA/J

craniofacial

abnormal craniofacial morphology ( J:149166 )

• duplication of the ala temporalis cartilage is observed

abnormal craniofacial bone morphology ( J:149166 )

• at E18.5, mandible attaches to zygomatic bone by a duplicated zygomatic bone

• duplications of the palatine, pterygoid, and lamina obturans bones are present

absent Meckel's cartilage ( J:149166 )

• most of Meckel's cartilage is missing but symphysis is present surrounded by a small amount of membranous bone

abnormal incisor morphology ( J:149166 )

• incisor polarity is reversed in most embryos, with teeth projecting downward

abnormal mandible morphology ( J:149166 )

• 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

short mandible ( J:149166 )

• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla

abnormal incus morphology ( J:149166 )

• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone

absent incus ( J:149166 )

• 25% of inci examined are undetectable but small nodules of undefined cartilage are present

abnormal malleus morphology ( J:149166 )

• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type

absent malleus ( J:149166 )

• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present

abnormal stapes morphology ( J:149166 )

• 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

abnormal mouth floor morphology ( J:149166 )

• rugae (raised epithelial ridges) are present on the floor of the mouth, rather than being confined to the palate as in controls

tongue hypoplasia ( J:149166 )

• tongue hypoplasia is present

facial cleft ( J:149166 )

• 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

skeleton

abnormal craniofacial bone morphology ( J:149166 )

• at E18.5, mandible attaches to zygomatic bone by a duplicated zygomatic bone

• duplications of the palatine, pterygoid, and lamina obturans bones are present

absent Meckel's cartilage ( J:149166 )

• most of Meckel's cartilage is missing but symphysis is present surrounded by a small amount of membranous bone

abnormal incisor morphology ( J:149166 )

• incisor polarity is reversed in most embryos, with teeth projecting downward

abnormal mandible morphology ( J:149166 )

• 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

short mandible ( J:149166 )

• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla

abnormal incus morphology ( J:149166 )

• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone

absent incus ( J:149166 )

• 25% of inci examined are undetectable but small nodules of undefined cartilage are present

abnormal malleus morphology ( J:149166 )

• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type

absent malleus ( J:149166 )

• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present

abnormal stapes morphology ( J:149166 )

• 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

hearing/vestibular/ear

abnormal incus morphology ( J:149166 )

• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone

absent incus ( J:149166 )

• 25% of inci examined are undetectable but small nodules of undefined cartilage are present

abnormal malleus morphology ( J:149166 )

• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type

absent malleus ( J:149166 )

• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present

abnormal stapes morphology ( J:149166 )

• 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

digestive/alimentary system

tongue hypoplasia ( J:149166 )

• tongue hypoplasia is present

growth/size/body

abnormal incisor morphology ( J:149166 )

• incisor polarity is reversed in most embryos, with teeth projecting downward

abnormal mouth floor morphology ( J:149166 )

• rugae (raised epithelial ridges) are present on the floor of the mouth, rather than being confined to the palate as in controls

tongue hypoplasia ( J:149166 )

• tongue hypoplasia is present

facial cleft ( J:149166 )

• 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

Genotype
MGI:3849288

cn6

• Allelic Composition: Ednra^tm2Ywa/Ednra^tm2Ywa; Tg(Hand2-cre)7-1Clou/0
• Genetic Background: involves: C57BL/6J * SJL

craniofacial

craniofacial phenotype ( J:149166 )

N • at E18.5, lower jaw appears normal; no defects in mandible structure are observed