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Gene: Edn3 MGI:95285

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
endothelin 3
Synonyms:
tmgc48,  114CH19,  114-CH19

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Edn3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Edn3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:613265
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Hirschsprung Disease
Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Intestinal polyposis... ORPHA:388
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661

The table below shows human diseases predicted to be associated to Edn3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:613265
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Abcd Syndrome
Abnormal auditory evoked potentials, Neonatal death, Aganglionic megacolon, White eyebrow, White ... OMIM:600501
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglionic megacolon, White ey... ORPHA:2884
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... ORPHA:895
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:277580
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia, Small nail OMIM:235760
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon, Aplastic/hypoplastic toenail, Hypoplastic fingernail ORPHA:2150
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abnormal enteric ganglion morphology, Enterocolitis OMIM:142623
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon... OMIM:243180
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Abnormal social behavior ORPHA:436151
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Waardenburg Syndrome, Type 3
Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch... OMIM:148820
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Hirschsprung Disease
Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Intestinal polyposis... ORPHA:388
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan... OMIM:613266
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Dermotrichic Syndrome
Aganglionic megacolon, Hyperconvex toenail, Nail dystrophy ORPHA:99688
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, High palate OMIM:304100
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity OMIM:618103
Bresek Syndrome
Alopecia, Neonatal death, Aganglionic megacolon, Cleft palate, Optic nerve hypoplasia ORPHA:85284
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hyperconvex nail OMIM:613870
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships OMIM:608631
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... OMIM:145250
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Sparse eyebrow, Cleft palate, Sparse scalp hair ORPHA:66629
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity OMIM:606053
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes OMIM:300650
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
L1 Syndrome
Aganglionic megacolon ORPHA:275543
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Low anterior hairline ORPHA:261222
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Haddad Syndrome
Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic nervous system physiology ORPHA:99803
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Reduced social reciprocity OMIM:608636
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, I... ORPHA:163746
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Short-segment aganglionic megacolon, Decreased nerve conduction veloc... OMIM:609136
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Cartilage-Hair Hypoplasia
Sparse eyebrow, Anal stenosis, Fair hair, Fine hair, Sparse eyelashes, Aganglionic megacolon, Spa... OMIM:250250
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Rhombencephalosynapsis
Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Septo-optic d... ORPHA:59315
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus ORPHA:52503
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Highly arched eyebrow, Small nail, Anteriorly placed anus, Abnormal rectum morphology, Aganglioni... OMIM:239300
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Hypoplastic fingernail, Aganglionic megacolon, Anal atresia, Cleft palate OMIM:614749
Intellectual Developmental Disorder, Autosomal Recessive 6
Reduced social reciprocity OMIM:611092
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon ORPHA:452
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, White hair, Fine hair ORPHA:935
Congenital Alveolar Capillary Dysplasia
Volvulus, Duodenal stenosis, Intestinal malrotation, Aganglionic megacolon, Tracheoesophageal fis... ORPHA:210122
American Trypanosomiasis
Aganglionic megacolon, Achalasia ORPHA:3386
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Fryns Syndrome
Gastroesophageal reflux, Hypoplastic fingernail, Intestinal malrotation, Aganglionic megacolon, E... ORPHA:2059
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Highly arched eyebrow, Cleft palate ORPHA:220497
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Aganglionic megacolon, Hypoplastic fifth fingernail, Anal stenosis, Cleft palate OMIM:614207
Hyperphosphatasia-Intellectual Disability Syndrome
Bifid uvula, Highly arched eyebrow, Small nail, Anteriorly placed anus, Supernumerary nipple, Aga... ORPHA:247262
Orofaciodigital Syndrome V
Bifid uvula, Optic disc coloboma, Hamartoma of tongue, Ankyloglossia, Aganglionic megacolon, Bifi... OMIM:174300
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Highly arched eyebrow ORPHA:2318
Familial Visceral Myopathy
Aganglionic megacolon, Anonychia, Cleft palate ORPHA:2604
Joubert Syndrome
Aganglionic megacolon, Highly arched eyebrow ORPHA:475
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Highly arched eyebrow, Cleft palate ORPHA:220493
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Cleft soft palate, Aganglionic megacolon, Bifid tongue ORPHA:2919
Ramos-Arroyo Syndrome
High anterior hairline, Xerostomia, Smooth tongue, Aganglionic megacolon, Abnormal autonomic nerv... ORPHA:1051
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
11Q22.2Q22.3 Microdeletion Syndrome
Hyperpigmentation of the skin, Thick eyebrow, Abnormal social behavior ORPHA:444002
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Thick eyebrow, Aganglionic megacolon, Sparse hair, Synophrys OMIM:609460
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Ileus OMIM:300352
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Thick eyebrow, Aganglionic megacolon, High palate OMIM:162300
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon OMIM:171400
Down Syndrome
Narrow palate, Macroglossia, Gastroesophageal reflux, Protruding tongue, Aganglionic megacolon, C... ORPHA:870
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Reduced social reciprocity ORPHA:397933
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Ineffective esophageal peristalsis, Abnormal autonomic nervous system phys... OMIM:209880
Fryns Syndrome
Meckel diverticulum, Small nail, Intestinal malrotation, Facial hirsutism, Aganglionic megacolon,... OMIM:229850
Pitt-Hopkins Syndrome
Gastroesophageal reflux, Hypopigmented skin patches, Supernumerary nipple, Esophagitis, Hiatus he... ORPHA:2896
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Generalized hyperpigmentation ORPHA:3339
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Gastroesophageal reflux, Volvulus, Aganglionic megacolon, Macroglossia ORPHA:847
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Reduced social reciprocity OMIM:617820
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Reduced social reciprocity ORPHA:329249
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Cleft palate ORPHA:2473
Bardet-Biedl Syndrome 1
High, narrow palate, Hirsutism, Aganglionic megacolon, Bone spicule pigmentation of the retina, H... OMIM:209900
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Duane-Radial Ray Syndrome
Aganglionic megacolon, Anal atresia, Facial palsy, Anal stenosis OMIM:607323
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism,... OMIM:203300
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon OMIM:613603
Fanconi Anemia
Irregular hyperpigmentation, Meckel diverticulum, Hypopigmented skin patches, Aplasia/Hypoplasia ... ORPHA:84
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Sparse eyebrow, Sparse hair, Abnormality of retinal pigmentation ORPHA:175
Toriello-Carey Syndrome
Sparse eyebrow, Anteriorly placed anus, Aganglionic megacolon, High palate, Cleft palate ORPHA:3338
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae
Reduced social reciprocity OMIM:617051
Smith-Lemli-Opitz Syndrome
Optic atrophy, Gastroesophageal reflux, Microglossia, Aganglionic megacolon, Bifid tongue, Abnorm... ORPHA:818
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Reduced social reciprocity, Supernumerary nipple OMIM:616083
Down Syndrome
Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia, Brushfie... OMIM:190685
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Acrofacial Dysostosis 1, Nager Type
Velopharyngeal insufficiency, Absent lower eyelashes, Aganglionic megacolon, Sparse lower eyelash... OMIM:154400
22Q11.2 Deletion Syndrome
Optic atrophy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Hypopigmented skin patches, ... ORPHA:567
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Reduced social reciprocity ORPHA:137831
Acro-Renal-Ocular Syndrome
Aganglionic megacolon, Optic disc coloboma ORPHA:959
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Ganglioneuromatosis, Neoplasm of the liver, Abnormal tongue morphology ORPHA:653
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Thin eyebrow... ORPHA:2273
Schinzel-Giedion Syndrome
Anteriorly placed anus, Aganglionic megacolon, Hepatoblastoma, Generalized hypertrichosis, Macrog... ORPHA:798
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Alopecia, Subungual hyperkeratosis, Atrichia, Nail dystrophy, Neonatal death, Absent eyelashes, N... OMIM:308205
Smith-Lemli-Opitz Syndrome
Bifid uvula, Gastroesophageal reflux, Microglossia, Intestinal malrotation, Aganglionic megacolon... OMIM:270400
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Hermansky-Pudlak Syndrome 11
Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect OMIM:619172
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon, Neonatal death OMIM:619362
Foxg1 Syndrome
Paroxysmal bursts of laughter, Reduced social reciprocity ORPHA:561854
Mednik Syndrome
Neonatal death, Microcolon, Volvulus, Jejunal atresia OMIM:609313
Bardet-Biedl Syndrome
Inflammation of the large intestine, Generalized hirsutism, Aganglionic megacolon, Abnormality of... ORPHA:110
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Supernumerary nipple, Submucous cleft hard palate, Broad ey... OMIM:235730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon OMIM:619431
Syngap1-Related Developmental And Epileptic Encephalopathy
Reduced social reciprocity ORPHA:544254
Pontocerebellar Hypoplasia, Type 8
Hypertrichosis, Long eyelashes, Thick eyebrow, Reduced social reciprocity, Synophrys OMIM:614961
Childhood Disintegrative Disorder
Reduced social reciprocity ORPHA:168782
Hermansky-Pudlak Syndrome 4
Albinism, Ocular albinism OMIM:614073
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Reduced social reciprocity ORPHA:254531
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Intestinal malrotation, Microcolon, Abnormality of the gastrointestinal tract, Hypoperistalsis ORPHA:2241
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Atypical Rett Syndrome
Inappropriate laughter, Reduced social reciprocity ORPHA:3095
Systemic Sclerosis
Barrett esophagus, Alopecia, Irregular hyperpigmentation, Intestinal bleeding, Gastroesophageal r... ORPHA:90291
Sotos Syndrome
Hypopigmentation of the skin, Gastroesophageal reflux, Small nail, Sparse anterior scalp hair, Ag... ORPHA:821
Myoclonic-Astatic Epilepsy
Frontal balding, Reduced social reciprocity ORPHA:1942
X-Linked Intellectual Disability, Van Esch Type
Reduced social reciprocity ORPHA:163976
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Ocular albinism, Iris transillumination defect, Blue irides, Generalized hypopi... OMIM:614077
Fg Syndrome Type 1
Abnormal large intestine morphology, Gastroesophageal reflux, Optic nerve hypoplasia, Frontal ups... ORPHA:93932
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Horizontal eyebrow, Broad eyebrow, Gastroin... ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 56
Reduced social reciprocity OMIM:617854
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Broad eyebrow, Aganglionic megacolon, Cleft... ORPHA:261537
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Albinism, Ocular albinism OMIM:614074
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Highly arched eyebrow, Bifid uvula, Submucous cleft of soft and hard palate, Optic atrophy, Broad... ORPHA:261552
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Reduced social reciprocity, Hyperpigmentatio... ORPHA:177907
Microphthalmia, Syndromic 1
High, narrow palate, Optic disc coloboma, Aganglionic megacolon, Anal atresia, High palate, Recta... OMIM:309800
Parkinsonism-Dystonia 3, Childhood-Onset
Reduced social reciprocity OMIM:619738
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Intellectual Developmental Disorder, Autosomal Dominant 1
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Inappropriate laughter, Reduced social reci... OMIM:156200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Reduced social reciprocity OMIM:615157
Hermansky-Pudlak Syndrome 2
Gastroesophageal reflux, Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized ... OMIM:608233
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Partial albinism, Perineal fistula, Iris transillu... OMIM:614075
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Irregular hyperpigmentation, Intestinal polyposis, Multiple ... ORPHA:109
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Ridged nail, Tiger tail banding, Alopecia of scalp, Concave nail... ORPHA:33364
Neurodegeneration With Brain Iron Accumulation 2A
Reduced social reciprocity OMIM:256600
Beck-Fahrner Syndrome
Reduced social reciprocity OMIM:618798
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Excessive shyness, Reduced social reciprocity ORPHA:449291
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Inappropriate laughter, Overfriendli... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Hypopigmentation of the skin, Fair hair, Vitiligo, Inappropriate laughter, Overfriendli... ORPHA:363958
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia OMIM:619351
Phelan-Mcdermid Syndrome
Toenail dysplasia, Long eyelashes, Thick eyebrow, Hypoplastic toenails, Reduced social reciprocity OMIM:606232
Alg11-Cdg
Reduced social reciprocity ORPHA:280071
Congenital Disorder Of Deglycosylation 2
Highly arched eyebrow, Reduced social reciprocity OMIM:619775
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Delayed early-childhood social milestone development, Reduced social reciprocity ORPHA:300570
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Median cleft palate, Albinism, Hypopigmentation of... OMIM:242840
Pitt-Hopkins-Like Syndrome 1
Reduced social reciprocity OMIM:610042
Hermansky-Pudlak Syndrome 10
Albinism, Ocular albinism OMIM:617050
47,Xyy Syndrome
Reduced social reciprocity ORPHA:8
Dihydropyrimidine Dehydrogenase Deficiency
Long eyelashes, Short nail, Abnormal social behavior ORPHA:1675
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Proximal 16P11.2 Microdeletion Syndrome
Reduced social reciprocity ORPHA:261197
Mend Syndrome
Spotty hypopigmentation, Abnormal social behavior ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Reduced social reciprocity OMIM:309520
Young-Onset Parkinson Disease
Reduced social reciprocity ORPHA:2828
Lead Poisoning
Reduced social reciprocity ORPHA:330015
Chromosome 15Q11.2 Deletion Syndrome
Reduced social reciprocity OMIM:615656
Restrictive Dermopathy
Sparse eyebrow, Short nail, Microcolon, Sparse or absent eyelashes, Submucous cleft hard palate, ... ORPHA:1662
Wagro Syndrome
Reduced social reciprocity OMIM:612469
7Q11.23 Microduplication Syndrome
Horizontal eyebrow, Sparse anterior scalp hair, Long eyelashes, Reduced social reciprocity, Cafe-... ORPHA:96121
Intellectual Developmental Disorder, X-Linked 98
Reduced social reciprocity OMIM:300912
Adnp Syndrome
High anterior hairline, Reduced social reciprocity, Hirsutism, Abnormality of the nail, Sparse sc... ORPHA:404448
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Intestinal malrotation OMIM:600001
Rett Syndrome, Congenital Variant
Reduced social reciprocity OMIM:613454
Tuberous Sclerosis Complex
Ungual fibroma, Abnormal social behavior, Hypomelanotic macule ORPHA:805
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hypopigmentation of the skin, Melanocytic nevus, Thick eyebrow, Reduced social reciprocity, Broad... OMIM:619475
Helsmoortel-Van Der Aa Syndrome
High anterior hairline, Reduced social reciprocity OMIM:615873
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Broad eyebrow, Sparse eyebrow, Reduced social reciprocity ORPHA:457359
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Williams Syndrome
Abnormal fingernail morphology, Overfriendliness, Hypoplastic toenails, Blue irides, Abnormal soc... ORPHA:904
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Chromosome 1P36 Deletion Syndrome, Distal
Abnormality of the hairline, Horizontal eyebrow, Reduced social reciprocity, Synophrys OMIM:607872
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Reduced social reciprocity, Pilomatrixoma ORPHA:353281
17Q11 Microdeletion Syndrome
Hypermelanotic macule, Multiple cafe-au-lait spots, Reduced social reciprocity, Freckling ORPHA:97685
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Highly arched eyebrow, Trichiasis, Pilomatrixoma, Reduced social reciprocity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Highly arched eyebrow, Trichiasis, Pilomatrixoma, Reduced social reciprocity ORPHA:353277
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Reduced social reciprocity ORPHA:293987

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Edn3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Edn3.

No publications found that use IMPC mice or data for Edn3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Edn3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Edn3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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