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Gene: Or1e1c MGI:3030210

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Gene Summary

Name:
olfactory receptor family 1 subfamily E member 1C
Synonyms:
GA_x6K02T2P1NL-3535075-3536028,  Olfr376,  MOR135-12

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal cecum morphology Or1e1cem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Or1e1cem1(IMPC)Mbp HOM Early adult 0.00
enlarged cecum Or1e1cem1(IMPC)Mbp HOM Early adult 0.00
abnormal ovary morphology Or1e1cem1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Or1e1cem1(IMPC)Mbp HOM Late adult 0.00
decreased circulating bilirubin level Or1e1cem1(IMPC)Mbp HOM Late adult 6.49×10-05
abnormal heart morphology Or1e1cem1(IMPC)Mbp HOM Early adult 0.00
decreased circulating aspartate transaminase level Or1e1cem1(IMPC)Mbp HOM Late adult 7.58×10-06
enlarged ovary Or1e1cem1(IMPC)Mbp HOM Late adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

74 Images

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X-ray

XRay Images Whole Body Lateral Orientation

25 Images

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X-ray

XRay Images Whole Body Dorso Ventral

23 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Or1e1c 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Or1e1c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Ethanolaminosis
Cardiomegaly OMIM:227150
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor... ORPHA:90301
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia OMIM:237500
Biliary Atresia, Extrahepatic
Cirrhosis, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Burkitt Lymphoma
Hyperuricemia, Abnormality of the ovary, Abnormality of the spleen, Abnormality of the liver, Abn... ORPHA:543
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hypotriglyceridemia... ORPHA:2298
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:79084
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Polycystic ovaries, Hepatic steatosis OMIM:608709
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Enlarged polycystic ovaries, Biliary tract neoplasm, Pancreatic a... ORPHA:2869
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification ORPHA:314473
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased circulating gonadotropin level, Ovarian cyst, Enlarged polycy... ORPHA:64739
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Hypokalemia, Long penis, Precocious puberty, Increased C-peptide level, Inc... ORPHA:769
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hepatomegaly,... OMIM:616278
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... ORPHA:91
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p... ORPHA:785
Leprechaunism
Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hypokalemia, Long penis, Enlarged ovaries, I... ORPHA:508
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries, Cryptorchidism ORPHA:2745
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... ORPHA:199310
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Xp22.3 Microdeletion Syndrome
Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Polycystic ovaries, Hepatomegaly, Hepatic steatosis ORPHA:79085
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis, Gonadal ... ORPHA:314478
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Elevated circulating creati... ORPHA:435660
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti... OMIM:619662
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera... ORPHA:79302
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis ORPHA:435651
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Polycyst... OMIM:604367
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Clitoral hypertrophy, Precoc... ORPHA:528
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells... OMIM:228300
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, High palate, Splenomegaly OMIM:269920
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism ORPHA:3085
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating he... ORPHA:264580
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Preeclampsia
Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr... ORPHA:275555
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Microglossia, Cardiomegaly OMIM:253250
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux ORPHA:3137
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Splenomegaly, Polycys... ORPHA:79083
Donohue Syndrome
Clitoral hypertrophy, Long penis, Cholestasis, Precocious puberty, Ovarian cyst, Hepatic fibrosis... OMIM:246200
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Ataxia-Telangiectasia
Polycystic ovaries, Elevated circulating hepatic transaminase concentration, Abnormal testis morp... ORPHA:100
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary OMIM:611548
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Necrotizing enterocolitis, Hypertrophic cardiomyopathy, Ca... OMIM:201475
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Elevated circulating hepatic transaminase concentration, Hypergonadotropic hy... OMIM:268020
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating follicle stimulating hormone level, E... OMIM:619834
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Hypokalemia, Long penis, ... ORPHA:90795
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steat... ORPHA:2348
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Cowden Syndrome
Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic ovaries, Abnormality of the uter... ORPHA:201
Hemochromatosis, Type 1
Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:235200
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventricular hypertrop... ORPHA:335
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Premature Ovarian Failure 10
Azoospermia, Hypoplasia of the ovary, Decreased testicular size, Elevated circulating follicle st... OMIM:612885
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism... OMIM:306955
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa... ORPHA:79086
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Mitral valv... ORPHA:324410
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Hypoplasminogenemia
Cervicitis, Abnormal fallopian tube morphology, Decreased level of plasminogen, Abnormality of th... ORPHA:722
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst OMIM:617100
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Cholestasis, Abnormal testis morphology, Precocious puberty... ORPHA:562
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Cardiomegaly, Gastroesophageal reflux, Abnormal heart valve morpholo... ORPHA:363705
Hsd10 Disease, Infantile Type
Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Gastrointestinal dysmotility ORPHA:391428
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology ORPHA:1227
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, ... OMIM:175200
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Ovarian cyst OMIM:610475
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, High palate OMIM:618798
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Ova... ORPHA:1772
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Cleft palate, Hypertrophic cardiomyopathy OMIM:616897
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... OMIM:151660
Ovarian Dysgenesis 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614324
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ... ORPHA:744
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Lethal Congenital Contracture Syndrome 10
Narrow palate, High palate, Cardiomegaly, Overriding aorta, Ventricular septal defect, Macroglossia OMIM:617022
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Splenomegaly, Cholangiocarcinoma, Cardiom... ORPHA:465508
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Left ventricular hypertrophy, Biliary tract abnormality, Decreased test... OMIM:209900
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology... ORPHA:95430
Cowden Syndrome 6
Varicocele, Ovarian cyst, Goiter, Hydrocele testis OMIM:615109
Cowden Syndrome 1
Varicocele, Ovarian cyst, Goiter, Ovarian carcinoma, Hydrocele testis OMIM:158350
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Cowden Syndrome 5
Goiter, Ovarian cyst, Hydrocele testis OMIM:615108
Sandhoff Disease
Cardiomegaly, Macroglossia, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Spleno... ORPHA:280365
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Mogs-Cdg
Hepatomegaly, High palate, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial... ORPHA:79330
Systemic Sclerosis
Myocarditis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal... ORPHA:90291
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cleft palate, Cardiomyopathy ORPHA:158687
Fg Syndrome Type 1
Gastroesophageal reflux, High palate, Anal atresia, Abnormal large intestine morphology, Pyloric ... ORPHA:93932
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Macroglossia ORPHA:308552
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Dysphagia, Right ventricular hypertrophy ORPHA:268
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cleft palate, Bifid uvula, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal... OMIM:614921
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Short Syndrome
Ovarian cyst OMIM:269880
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Hepatomegaly, High palate, Cardiomegaly, Dilated cardiomyopathy OMIM:608836
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Hypercholesterolemia, E... ORPHA:79259
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Dysphagia, Cardiomegaly OMIM:608013
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism, Splenic cyst OMIM:618188
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Polycystic ovaries, Premature thelarche ORPHA:371428
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Cleft palate, Mitral valve prolapse, Left ventricula... OMIM:245600
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Hypercalcemia, Hypophosphat... ORPHA:249
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He... ORPHA:1359
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Macroglossia, Hepatomegaly OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, High palate ORPHA:2463
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Glycogen Storage Disease Ii
Cardiomegaly, Macroglossia, Splenomegaly, Hepatomegaly OMIM:232300
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom... OMIM:602782
Infantile Systemic Hyalinosis
Polycystic ovaries ORPHA:2176
Chromosome 17Q12 Deletion Syndrome
Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut... OMIM:614527
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Le... OMIM:300967
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis ORPHA:276280
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula,... OMIM:201750
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Abnormal myocar... ORPHA:581
Orofaciodigital Syndrome I
Hepatic cysts, Hepatic fibrosis, Pancreatic cysts, Ovarian cyst OMIM:311200
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Fucosidosis
Cardiomegaly, Macroglossia, Splenomegaly, Hepatomegaly OMIM:230000
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, High palate, Cardiomegaly, Ventricular septal defect, Macroglossia ORPHA:96191
Abetalipoproteinemia
Cardiomegaly, Steatorrhea, Hepatomegaly, Fat malabsorption ORPHA:14
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Bardet-Biedl Syndrome
Hypertriglyceridemia, Hydrometrocolpos, Decreased HDL cholesterol concentration, Elevated circula... ORPHA:110
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Macroglossia OMIM:252500
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Hepatoblastoma, Pancreatic hyperplasia, Cardiomega... OMIM:130650
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, High, narrow palate, Cardiomegaly ORPHA:91387
Ogden Syndrome
Left atrial enlargement, Narrow palate, Perimembranous ventricular septal defect, Enlarged kidney... OMIM:300855
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Colitis OMIM:620376
Histiocytoid Cardiomyopathy
Cardiomegaly, Polycystic ovaries, Hepatomegaly ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Dysphagia, Left ventricular hypertrophy, Cardiomegaly,... ORPHA:365
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu... ORPHA:572333
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, High palate, Narrow palate OMIM:620371
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology ORPHA:109
Bohring-Opitz Syndrome
Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99226
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Large intestinal polyp... ORPHA:116
Digeorge Syndrome
Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Parathyroid hypoplasia, Ovarian cyst, Spl... OMIM:188400
Williams Syndrome
Abnormal endocardium morphology, Peptic ulcer, Rectal prolapse, Cardiomegaly, Gastroesophageal re... ORPHA:904
Liver Disease, Severe Congenital
Left atrial enlargement, Protein-losing enteropathy, Hepatomegaly, Chronic gastritis, Patent fora... OMIM:619991
Yunis-Varon Syndrome
High, narrow palate, Cardiomyopathy, Glossoptosis, Pyloric stenosis, Tetralogy of Fallot, Cardiom... ORPHA:3472
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Aicardi-Goutières Syndrome
Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Splenomegaly, Cardiomegaly, Macroglossia OMIM:256040
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification ORPHA:51608

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 Or1e1c

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 Or1e1c.

No publications found that use IMPC mice or data for Or1e1c.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Or1e1cem1(IMPC)Mbp Exon Deletion Mice, Tissue

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