Gene Summary

Name:
solute carrier family 22 (organic cation transporter), member 4
Synonyms:
Octn1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged cecum Slc22a4tm1.1(KOMP)Vlcg HOM Early 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 Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Slc22a4 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 Slc22a4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rheumatoid Arthritis
Rheumatoid arthritis OMIM:180300

The table below shows human diseases predicted to be associated to Slc22a4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... OMIM:619445
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology OMIM:251850
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea, Arthritis OMIM:613217
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic OMIM:615863
Lactose Intolerance, Adult Type
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Immunodeficiency 31C
Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Abnormal intestine morphology OMIM:614162
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Colonic Atresia
Colonic atresia OMIM:303650
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis OMIM:614328
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
5-Oxoprolinase Deficiency
Prolinuria, Enterocolitis, Abdominal pain, Diarrhea, Increased level of L-pyroglutamic acid in ur... OMIM:260005
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abdominal distention, Abnormality of small intestinal villus morphology ORPHA:2290
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea OMIM:614602
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption, Diarrhea OMIM:600955
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Episodic vomiting, Feeding difficulties in infancy, Villous atrophy, Se... OMIM:616050
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Villous atrophy, Protracted diarrhea, Chronic mucocutane... OMIM:209920
Congenital Short Bowel Syndrome
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... OMIM:615237
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy OMIM:602579
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Tube feeding, Eczema, Vomiting, Villous atrophy, Chronic diarrhea, Erythroderma OMIM:619510
Netherton Syndrome
Intestinal atresia, Allergic rhinitis, Villous atrophy, Erythroderma, Abnormal intestine morphology OMIM:256500
Refractory Celiac Disease
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Villous atrophy, Protein-los... ORPHA:398063
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent otitis media, Colitis, Conjunctivitis, Inflammation of the large intest... OMIM:614700
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Congenital Disorder Of Glycosylation, Type Id
High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eczema, Glomerulonephritis, Arthritis, Villous atrophy, Hepatitis, Chronic diarrhea, Eryth... OMIM:304790
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Abnormal esophagus physiology, Dysphagia, Gastroint... ORPHA:2198
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer OMIM:613244
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Primary Intestinal Lymphangiectasia
Abdominal pain, Chronic diarrhea, Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin... ORPHA:90362
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Acne ORPHA:69126
Intussusception
Intussusception OMIM:147710
Eosinophilic Gastroenteritis
Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr... ORPHA:2070
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Thyroiditis, Chronic oral candidiasis, Eczema, Villous atrophy, Chronic diarrhea, Erythroderma, P... OMIM:606367
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis OMIM:618394
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, Pneumonia, Colitis, Osteomyelitis, Arthritis, Villous atrophy, Hep... OMIM:619381
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine, Abdominal pain ORPHA:100025
Osteootohepatoenteric Syndrome
Abdominal pain, Episodic vomiting, Ileoileal intussusception, Villous atrophy, Secretory diarrhea... OMIM:619377
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Eczema, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Arthritis, ... OMIM:616100
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis OMIM:613412
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Chronic diarrhea OMIM:619858
Graft Versus Host Disease
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Abdominal pain, Maculopapular ex... ORPHA:39812
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... ORPHA:26790
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Esophageal carcinoma, Vill... ORPHA:391487
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... OMIM:300048
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Diarrhea, Vomiting, Feeding difficulties in infancy, Villous atrophy, Pericarditis OMIM:212065
Pearson Marrow-Pancreas Syndrome
Malabsorption, Exocrine pancreatic insufficiency, Hepatic failure, Steatorrhea, Anorexia, Vomitin... OMIM:557000
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia... OMIM:618935
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis,... OMIM:175500
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... OMIM:618108
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... ORPHA:84064
Selective Igm Deficiency
Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... ORPHA:331235
Visceral Myopathy 1
Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Dysphagia, ... OMIM:155310
Mungan Syndrome
Abdominal pain, Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, ... OMIM:611376
Immunodeficiency 87 And Autoimmunity
Increased fecal calprotectin level, Cleft palate, Hepatic failure, Necrotizing enterocolitis, Fee... OMIM:619573
Mpi-Cdg
Decreased liver function, Diarrhea, Vomiting, Protein-losing enteropathy, Gastrointestinal hemorr... ORPHA:79319
Sandifer Syndrome
Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso... ORPHA:71272
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Crohn's disease OMIM:619705
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Alg9-Cdg
Gastroesophageal reflux, Diarrhea, Vomiting, Bifid uvula, Villous atrophy ORPHA:79328
Alg1-Cdg
Abnormality of the gastrointestinal tract, Decreased liver function, Protein-losing enteropathy, ... ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Elevated circulating creatini... OMIM:608104
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Abdominal pain, Hepatic failure ORPHA:567983
Trichohepatoenteric Syndrome 1
Villous atrophy, Intractable diarrhea, Bifid uvula, Hepatic failure OMIM:222470
Scleroderma
Keratitis, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett eso... ORPHA:801
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Familial Mediterranean Fever
Crohn's disease, Episodic abdominal pain, Orchitis, Abdominal pain, Peritonitis, Diarrhea, Vomiti... OMIM:249100
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Ost... ORPHA:90291
Immunodeficiency 58
Bronchiectasis, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pylori... OMIM:618131
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Primary Biliary Cholangitis
Abdominal distention, Hepatic failure, Hepatocellular carcinoma, Hepatitis, Celiac disease, Gastr... ORPHA:186
Alg6-Cdg
Feeding difficulties, Protein-losing enteropathy, Macroglossia ORPHA:79320
Scedosporiosis
Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Endocarditis, Pneumonia, Pericarditis, Art... ORPHA:449280
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Sapho Syndrome
Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk... ORPHA:793
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Fat malabsorption, Hepatic failure OMIM:214950
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Crohn's disease OMIM:619632
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Abdominal pain, Skin rash, Diarrhea, Inflammation of the large intest... OMIM:301074
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Feeding difficulties, Gastroesophageal reflux, Esophagitis ORPHA:79350
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Spondyloarthropathy, Susceptibility To, 1
Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... OMIM:106300
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption ORPHA:71
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Viral hepatitis, Unusual gastrointe... ORPHA:48435
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Steatorrhea, Diarrhea, Fat malabsorption OMIM:607765
Immunodeficiency 92
Osteomyelitis, Sclerosing cholangitis, Chronic diarrhea, Esophagitis, Pneumonia, Cholangitis OMIM:619652
Zygomycosis
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... ORPHA:73263
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Hereditary Hyperekplexia
Gastroesophageal reflux, Hiatus hernia, Esophagitis ORPHA:3197
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Harrod Syndrome
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Aganglionic megac... OMIM:601095
Whim Syndrome
Sinusitis, Otitis media, Lymphadenitis, Severe periodontitis, Abnormality of the small intestine,... ORPHA:51636
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Inflammatory abnormality of the skin, Abdominal distention, Conjunctivitis, Skin rash,... ORPHA:95455
Pgm3-Cdg
High palate, Osteomyelitis, Gastroesophageal reflux, Recurrent skin infections, Eczema, Membranop... ORPHA:443811
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Esophagitis, Pneumonia ORPHA:3348
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption OMIM:211600
Cat Eye Syndrome
Anal atresia, Rectal fistula, Cleft palate, Intestinal malrotation, Volvulus, Anal stenosis, Rect... OMIM:115470
Juvenile Polyposis Syndrome
Small intestinal polyposis, Intussusception, Stomach cancer, Abdominal pain, Intestinal polyp, Ne... ORPHA:2929
Microgastria-Limb Reduction Defect Syndrome
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, Intestinal malrotatio... ORPHA:2538
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Recurrent skin infections, Glomerulonephritis, Malnutrition, Esophageal ... ORPHA:79408
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract ORPHA:2847
Severe Generalized Junctional Epidermolysis Bullosa
Constipation, Pyoderma, Recurrent skin infections, Vomiting, Esophageal stricture, Malnutrition, ... ORPHA:79404
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure ORPHA:79302
Zollinger-Ellison Syndrome
Episodic abdominal pain, Diarrhea, Duodenal ulcer, Hematochezia, Intestinal obstruction, Peptic u... ORPHA:913
Metachromatic Leukodystrophy
Abnormal stomach morphology, Intussusception, Feeding difficulties, Abnormal duodenum morphology,... ORPHA:512
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Abdominal distention, Cleft palate, Hepatic failure, Protein-losing enteropathy OMIM:235255
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... ORPHA:2908
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Erysipelas, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia OMIM:235510
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... ORPHA:99413
Turner Syndrome
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... ORPHA:881
Mosaic Monosomy X
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... ORPHA:99228
Monosomy X
High palate, High, narrow palate, Inflammation of the large intestine, Hashimoto thyroiditis, Rec... ORPHA:99226
Localized Scleroderma
Gastroesophageal reflux, Arthritis, Uveitis, Fasciitis, Hashimoto thyroiditis, Esophagitis ORPHA:90289
Oculoskeletodental Syndrome
Protein-losing enteropathy, Macroglossia OMIM:618440
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Hiatus hernia, Esophagitis ORPHA:1901
Diamond-Blackfan Anemia 7
Esophagitis, Cleft palate, Recurrent otitis media OMIM:612562
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Abdominal distention, Protein-losing enteropathy, Hepatic failure ORPHA:1655
Multiple Endocrine Neoplasia, Type I
Diarrhea, Peptic ulcer, Zollinger-Ellison syndrome, Esophagitis OMIM:131100
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Protein-losing enteropathy, Hematochezia OMIM:618183
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Esophagitis, Hepatic failure ORPHA:541423
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Constipation, Gastroesophageal reflux, High, narrow palate, Vomiting, Feeding difficulties in inf... ORPHA:96182
Storm Syndrome
Fat malabsorption OMIM:185069
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Feeding difficulties, Esophageal varix, Fat malabsorption, Pr... ORPHA:731
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoesophageal fistula, ... OMIM:265380
Tarp Syndrome
Glossoptosis, Tongue nodules, Abnormal duodenum morphology, Cleft palate ORPHA:2886
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Hiatus hernia, Constipation, Cleft palate, Recurrent skin infections, Intestinal mal... OMIM:601776
Liver Disease, Severe Congenital
Chronic gastritis, Exocrine pancreatic insufficiency, Recurrent otitis media, Abdominal distentio... OMIM:619991
Occipital Horn Syndrome
Hiatus hernia, High, narrow palate, Gastroesophageal reflux, Poor suck, Hepatitis, Esophagitis, A... ORPHA:198
Multiple Endocrine Neoplasia Type 4
Episodic abdominal pain, Diarrhea, Peptic ulcer, Esophagitis, Zollinger-Ellison syndrome ORPHA:276152
Fraser Syndrome 1
Abnormality of the small intestine, Cleft palate, Abnormality of the anus OMIM:219000
Rheumatoid Arthritis
Rheumatoid arthritis OMIM:180300

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 Slc22a4

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 Slc22a4.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa. Frontiers in genetics (February 2021) Slc22a4tm1.1(KOMP)Vlcg PMC7902881

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MGI Allele Allele Type Produced
Slc22a4tm37804(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc22a4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Slc22a4tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Slc22a4tm37804(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc22a4tm302969(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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