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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
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... ORPHA:897
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon 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
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Piebald Trait
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... OMIM:172800
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, 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
Red hair, Partial albinism, Albinism 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
White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin... OMIM:600501
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Piebaldism
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... ORPHA:2884
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Waardenburg Syndrome, Type 4A
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Small nail, Aganglionic megacolon, Anal atresia OMIM:235760
Hirschsprung Disease-Type D Brachydactyly Syndrome
Hypoplastic fingernail, Aganglionic megacolon, Aplastic/hypoplastic toenail ORPHA:2150
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... ORPHA:897
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis OMIM:142623
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Cafe-au-lait spot ORPHA:436151
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Waardenburg Syndrome, Type 3
Aganglionic megacolon, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Prem... OMIM:148820
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... ORPHA:894
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... ORPHA:3440
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... OMIM:613266
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Dermotrichic Syndrome
Aganglionic megacolon, Nail dystrophy, Hyperconvex toenail ORPHA:99688
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Aganglionic megacolon OMIM:304100
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Bresek Syndrome
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Neonatal death ORPHA:85284
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hyperconvex nail OMIM:613870
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Sparse scalp hair, Aganglionic megacolon, Cleft palate ORPHA:66629
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism 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 hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes, Malabsorption, Sparse... OMIM:250250
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Malabsorption ORPHA:452
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Aganglionic megacolon, Fine hair, Malabsorption ORPHA:935
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ileus, Hypopigmente... ORPHA:163746
Congenital Ptosis
Congenital Horner syndrome, Congenital facial diplegia, Piebaldism, Long eyelashes, Cafe-au-lait ... ORPHA:91411
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia ORPHA:171680
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Short... OMIM:609136
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... ORPHA:59315
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Cleft palate, Anal atresia, Hypoplastic fingernail OMIM:614749
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Hyperconvex nail, Highly arched eyebrow, Cleft palate, Anteriorly placed a... OMIM:239300
X-Linked Creatine Transporter Deficiency
Ileus, Aganglionic megacolon ORPHA:52503
Aland Island Eye Disease
Albinism OMIM:300600
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
American Trypanosomiasis
Achalasia, Aganglionic megacolon ORPHA:3386
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Down Syndrome
Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Sparse hair, Anal atresia ORPHA:870
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Aganglionic megacolon, Cleft palate ORPHA:220497
Fryns Syndrome
Hypoplastic fingernail, Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus... ORPHA:2059
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hypoplastic fifth fingernail, Anal stenosis, Aganglionic megacolon, Cleft palate OMIM:614207
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Highly arched eyebrow, Supernumerary nipple, Anteriorly placed anus, High ... ORPHA:247262
Orofaciodigital Syndrome V
Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Lobulated tongue, ... OMIM:174300
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Highly arched eyebrow ORPHA:2318
Joubert Syndrome
Aganglionic megacolon, Highly arched eyebrow ORPHA:475
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Aganglionic megacolon, Cleft palate ORPHA:220493
Familial Visceral Myopathy
Anonychia, Aganglionic megacolon, Cleft palate ORPHA:2604
Orofaciodigital Syndrome Type 5
Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Bifid uvula ORPHA:2919
Ramos-Arroyo Syndrome
Sparse scalp hair, Aganglionic megacolon, Xerostomia, Smooth tongue, Abnormal autonomic nervous s... ORPHA:1051
11Q22.2Q22.3 Microdeletion Syndrome
Thick eyebrow, Abnormal social behavior, Hyperpigmentation of the skin ORPHA:444002
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, High palate, Thick eyebrow OMIM:162300
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow OMIM:609460
Multiple Endocrine Neoplasia, Type Iia
Aganglionic megacolon OMIM:171400
Cerebral Creatine Deficiency Syndrome 1
Ileus, Aganglionic megacolon OMIM:300352
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Central Hypoventilation Syndrome, Congenital, 1
Ineffective esophageal peristalsis, Aganglionic megacolon, Abnormal autonomic nervous system phys... OMIM:209880
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Anonychia, Still... OMIM:229850
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Hypopigmented skin patches, Gastroeso... ORPHA:2896
Toriello-Lacassie-Droste Syndrome
Generalized hyperpigmentation, Aganglionic megacolon ORPHA:3339
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Optic atrophy, Macroglossia, Gastroesophageal reflux, Volvulus ORPHA:847
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Anal atresia ORPHA:2473
Duane-Radial Ray Syndrome
Anal stenosis, Aganglionic megacolon, Facial palsy, Anal atresia OMIM:607323
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Aganglionic megacolon, High, narrow palate, High palate,... OMIM:209900
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon OMIM:613603
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon, Malabsorption, Sparse eyebrow, Sparse... ORPHA:175
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Toriello-Carey Syndrome
Aganglionic megacolon, Sparse eyebrow, Cleft palate, Anteriorly placed anus, High palate ORPHA:3338
Mckusick-Kaufman Syndrome
Aganglionic megacolon, Anal atresia, Rectovaginal fistula OMIM:236700
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... ORPHA:84
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology ORPHA:85451
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash morphology, Pyloric stenosis, O... ORPHA:818
Down Syndrome
Aganglionic megacolon, Protruding tongue, Brushfield spots, Duodenal stenosis, Macroglossia, Anal... OMIM:190685
Acrofacial Dysostosis 1, Nager Type
Sparse lower eyelashes, Aganglionic megacolon, Velopharyngeal insufficiency, Absent lower eyelash... OMIM:154400
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Anorectal anomaly, Op... ORPHA:567
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Abnormal tongue morphology, Aganglionic megacolon, Ganglioneuromatosis ORPHA:653
Acro-Renal-Ocular Syndrome
Optic disc coloboma, Aganglionic megacolon ORPHA:959
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Aganglionic megacolon, Sparse scalp hair, Abs... OMIM:308205
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Aganglionic megacolon, Abnormal eyelash morphology, Ab... ORPHA:2273
Schinzel-Giedion Syndrome
Aganglionic megacolon, Generalized hypertrichosis, Anteriorly placed anus, Macroglossia, High pal... ORPHA:798
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Cl... OMIM:270400
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Mednik Syndrome
Neonatal death, Volvulus, Jejunal atresia, Microcolon OMIM:609313
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Microcolon OMIM:619362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Mowat-Wilson Syndrome
Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Cleft... OMIM:235730
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotation, Hypoperistalsis ORPHA:2241
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism OMIM:614073
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett... ORPHA:90291
Sotos Syndrome
Aganglionic megacolon, Sparse anterior scalp hair, Gastroesophageal reflux, Small nail, Hypopigme... ORPHA:821
Fg Syndrome Type 1
Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenos... ORPHA:93932
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism OMIM:614076
Hermansky-Pudlak Syndrome 8
Optic disc pallor, Albinism, Silver-gray hair, Blue irides, Ocular albinism, Iris transilluminati... OMIM:614077
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Mowat-Wilson Syndrome
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Gastrointestinal dysmotility, Enteroc... ORPHA:2152
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Abnormal social behavior, Impaired social interactions, Stellate iris, ... ORPHA:177907
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Cleft palate, Submucous cleft of soft... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Highly arched eyebrow, Cleft hard palate, Pyloric stenosis, Optic atrophy,... ORPHA:261552
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Optic disc coloboma, Pyloric stenosi... OMIM:309800
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Gastroesophageal reflux, Generalized h... OMIM:608233
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Numerous pigmented freckl... ORPHA:33364
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... ORPHA:109
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Alopecia, Abnormal social behavior, Cafe-au-lait spot, Inappropriate laughter, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Alopecia, Abnormal social behavior, Cafe-au-lait spot, Inappropriate laughter, ... ORPHA:363958
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia OMIM:619351
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Cleft palate, High palate, Dysphagia, Hypopi... OMIM:242840
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior, Long eyelashes, Short nail ORPHA:1675
Hermansky-Pudlak Syndrome 10
Ocular albinism, Albinism OMIM:617050
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Mend Syndrome
Abnormal social behavior, Spotty hypopigmentation ORPHA:401973
Restrictive Dermopathy
Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard... ORPHA:1662
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Intestinal malrotation, Microcolon OMIM:600001
Tuberous Sclerosis Complex
Ungual fibroma, Abnormal social behavior, Hypomelanotic macule ORPHA:805
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Williams Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Blue irides, Abnormal social behavior, Over... ORPHA:904
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646

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.

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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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