Phenotypes associated with this allele

• Allele Symbol: Edn1^tm1Utj
• Allele Name: targeted mutation 1, University of Tokyo
• Allele ID: MGI:1857637
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Edn1^tm1Utj/Edn1^tm1Utj	either: (involves: 129X1/SvJ * C57BL/6J) or (involves: 129X1/SvJ * ICR)	MGI:3711705
hm2	Edn1^tm1Utj/Edn1^tm1Utj	involves: 129X1/SvJ * ICR	MGI:3036167
ht3	Edn1^tm1Utj/Edn1^+	either: (involves: 129X1/SvJ * C57BL/6J) or (involves: 129X1/SvJ * ICR)	MGI:3036168
ht4	Edn1^tm1Utj/Edn1^+	involves: 129X1/SvJ * ICR	MGI:3717433

Genotype
MGI:3711705

hm1

• Allelic Composition: Edn1^tm1Utj/Edn1^tm1Utj
• Genetic Background: either: (involves: 129X1/SvJ * C57BL/6J) or (involves: 129X1/SvJ * ICR)

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

mortality/aging

perinatal lethality, complete penetrance ( J:17694 )

• none of the homozygotes opened their mouths to breath

• all respond poorly to tapping and pinching stimuli

craniofacial

abnormal Meckel's cartilage morphology ( J:17694 )

• at E13.5 and E15.5 the development of the Meckel's cartilage is severely impaired

• at E12.5 the mandibular arch is hypoplastic with no precartilage primordium

abnormal hyoid bone morphology ( J:17694 )

• the anterior neck is abnormally thin

absent hyoid bone ( J:17694 )

• at E18.5 the hyoid bone is absent

cleft chin ( J:17694 )

mandible hypoplasia ( J:17694 )

• at E18.5 the mandible was poorly developed and its fusion at the midline was incomplete

abnormal first pharyngeal arch morphology ( J:17694 )

• electron microscopy at E10.5 revealed poor swelling of the mandibular arch

• mandibular arch explants from E9.5 embryos showed poor development of the tongue epithelium, teeth, and glandular tissue

small second pharyngeal arch ( J:17694 )

• relatively small second arch at E10.5

cleft palate ( J:17694 )

abnormal tongue morphology ( J:17694 )

• at E18.5 most of the tongue is missing

abnormal tongue muscle morphology ( J:17694 )

• the basal region of the tongue is present but contains sparse and irregular muscle fibers

absent outer ear ( J:17694 )

• at E18.5 the auricles and external auditory meatus are absent

growth/size/body

cleft chin ( J:17694 )

cleft palate ( J:17694 )

abnormal tongue morphology ( J:17694 )

• at E18.5 most of the tongue is missing

abnormal tongue muscle morphology ( J:17694 )

• the basal region of the tongue is present but contains sparse and irregular muscle fibers

absent outer ear ( J:17694 )

• at E18.5 the auricles and external auditory meatus are absent

abnormal neck muscle morphology ( J:17694 )

• at E18.5 the muscles and connective tissue in the anterior neck are poorly developed

hearing/vestibular/ear

absent outer ear ( J:17694 )

• at E18.5 the auricles and external auditory meatus are absent

abnormal middle ear morphology ( J:17694 )

• at E18.5 most of the middle ear is absent

• the inner ear appears intact

muscle

abnormal tongue muscle morphology ( J:17694 )

• the basal region of the tongue is present but contains sparse and irregular muscle fibers

abnormal neck muscle morphology ( J:17694 )

• at E18.5 the muscles and connective tissue in the anterior neck are poorly developed

skeleton

abnormal Meckel's cartilage morphology ( J:17694 )

• at E13.5 and E15.5 the development of the Meckel's cartilage is severely impaired

• at E12.5 the mandibular arch is hypoplastic with no precartilage primordium

abnormal hyoid bone morphology ( J:17694 )

• the anterior neck is abnormally thin

absent hyoid bone ( J:17694 )

• at E18.5 the hyoid bone is absent

cleft chin ( J:17694 )

mandible hypoplasia ( J:17694 )

• at E18.5 the mandible was poorly developed and its fusion at the midline was incomplete

endocrine/exocrine glands

absent submandibular gland ( J:17694 )

• at E18.5 the submandibular gland is missing

embryo

abnormal first pharyngeal arch morphology ( J:17694 )

• electron microscopy at E10.5 revealed poor swelling of the mandibular arch

• mandibular arch explants from E9.5 embryos showed poor development of the tongue epithelium, teeth, and glandular tissue

small second pharyngeal arch ( J:17694 )

• relatively small second arch at E10.5

digestive/alimentary system

cleft palate ( J:17694 )

abnormal tongue morphology ( J:17694 )

• at E18.5 most of the tongue is missing

abnormal tongue muscle morphology ( J:17694 )

• the basal region of the tongue is present but contains sparse and irregular muscle fibers

absent submandibular gland ( J:17694 )

• at E18.5 the submandibular gland is missing

Genotype
MGI:3036167

hm2

• Allelic Composition: Edn1^tm1Utj/Edn1^tm1Utj
• Genetic Background: involves: 129X1/SvJ * ICR

Cardiovascular abnormalities in Edn1^tm1Utj/Edn1^tm1Utj mice at 18.5 dpc

cardiovascular system

abnormal cardiovascular system morphology ( J:26778 )

• cardiovascular malformations were not detected in J:17694 but upon further examination at E18.5 and through the use of anti-Edn1 antibodies or an Ednra antagonist to suppress maternal Edn1 activity cardiovascular abnormalities are found

• suppression of maternal Edn1 did not affect development of the heterozygous or wildtype littermates

abnormal pharyngeal arch artery morphology ( J:26778 )

• from E11.5 to E13.5 the first or second arch artery abnormally persists which may correspond to the extra arteries branching off the carotid arteries

abnormal fourth pharyngeal arch artery morphology ( J:26778 )

• between E11.5 and E13.5 the fourth arch arteries are diminished

abnormal aorta morphology ( J:26778 )

aorta tubular hypoplasia ( J:26778 )

• without suppression tubular hypoplasia of the aorta was rare (5 %); with the use of antibodies or antagonist occurrence of this increased to 20%

interrupted aorta ( J:26778 )

• without suppression interuption of the aorta was rare (2 %) with the use of antibodies or antagonist occurrence of this increased to 15% and 24% respectively

abnormal carotid artery morphology ( J:26778 )

• extra small arteries branching off the carotid arteries are found

absent right subclavian artery ( J:26778 )

• without suppression absence of the right subclavian artery was rare (13 %) with the use of antibodies or antagonist occurrence of this increased to 26% and 62% respectively

double outlet right ventricle ( J:26778 )

• with suppression the aorta frequently overrides the crest of the ventricular septum or arises mainly from the right ventricle

overriding aortic valve ( J:26778 )

• with suppression the aorta frequently overrides the crest of the ventricular septum or arises mainly from the right ventricle

ventricular septal defect ( J:26778 )

• a tiny ventricular septal defect was detected in 48% of homozygous mutants

• at E13.5 the endocardial cushion at the site of the septum is poorly developed without fusion to the muscular septum

• suppressing maternal Edn1 increased the size and frequency of the septal defect only in homozygous mutant mice to greater than 80%

dilated heart right ventricle ( J:26778 )

• with suppression the right ventricle is typically dilated indicating volume overload probably due to left to right shunt

craniofacial

abnormal pharyngeal arch artery morphology ( J:26778 )

• from E11.5 to E13.5 the first or second arch artery abnormally persists which may correspond to the extra arteries branching off the carotid arteries

abnormal fourth pharyngeal arch artery morphology ( J:26778 )

• between E11.5 and E13.5 the fourth arch arteries are diminished

embryo

abnormal pharyngeal arch artery morphology ( J:26778 )

• from E11.5 to E13.5 the first or second arch artery abnormally persists which may correspond to the extra arteries branching off the carotid arteries

abnormal fourth pharyngeal arch artery morphology ( J:26778 )

• between E11.5 and E13.5 the fourth arch arteries are diminished

Genotype
MGI:3036168

ht3

• Allelic Composition: Edn1^tm1Utj/Edn1⁺
• Genetic Background: either: (involves: 129X1/SvJ * C57BL/6J) or (involves: 129X1/SvJ * ICR)

cardiovascular system

increased systemic arterial blood pressure ( J:17694 )

• in 8 to 10 week old heterozygotes arterial blood pressure was increased but heart rate was the same as in wild-type mice

• there was no significant difference in the response to exogenous Edn1 between heterozygotes and wild-types

Genotype
MGI:3717433

ht4

• Allelic Composition: Edn1^tm1Utj/Edn1⁺
• Genetic Background: involves: 129X1/SvJ * ICR

cardiovascular system

increased mean systemic arterial blood pressure ( J:60070 )

homeostasis/metabolism

abnormal blood gas level ( J:60070 )

• increased partial CO2 pressure under conditions of hypercapnia relative to control mice

• decreased partial O2 pressure under conditions of hypoxia relative to control mice

hypercapnia ( J:60070 )

• increased partial CO2 pressure in the blood under conditions of hypercapnia relative to control mice

hypoxia ( J:60070 )

• decreased partial O2 pressure in the blood under conditions of hypoxia relative to control mice

nervous system

abnormal sympathetic nervous system physiology ( J:60070 )

• increased renal sympathetic nerve activity