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Gene: Slc22a4 MGI:1353479

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Gene Summary

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

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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
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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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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
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 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
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting OMIM:615863
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Blepharitis OMIM:614328
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-pyroglutamic acid in urine, Vomitin... OMIM:260005
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, E... OMIM:616050
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis OMIM:614602
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Diarrhea, Malabsorption OMIM:600955
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Netherton Syndrome
Villous atrophy, Recurrent skin infections, Eczema, Allergic rhinitis, Chronic rhinitis, Erythrod... OMIM:256500
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Erythroderma, Vomiting, Tube feeding OMIM:619510
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, Hepatic failure OMIM:602579
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Abdominal pain, Malabsorption, Chronic dia... ORPHA:398063
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Eryth... OMIM:304790
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula OMIM:601110
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
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
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Intussusception
Intussusception OMIM:147710
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Immunodeficiency 31C
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... OMIM:614162
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Psoriasiform dermatitis, Eczema, Chronic diarrhea, Erythroderma, Thyroiditis, Ch... OMIM:606367
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... OMIM:616100
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... ORPHA:2070
Autoinflammatory-Pancytopenia Syndrome
Chilblains, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chronic diarrhea OMIM:619858
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En... ORPHA:391487
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Abdominal pain, Malabsorption ORPHA:100025
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Protein-losing enteropathy, Chronic sinusitis OMIM:613502
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea OMIM:212065
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Vomiting, Steatorrhea, Punctate kerat... OMIM:557000
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Late-Onset Junctional Epidermolysis Bullosa
Gastrointestinal inflammation ORPHA:79406
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Self-Improving Dystrophic Epidermolysis Bullosa
Gastrointestinal inflammation ORPHA:79411
Syndromic Diarrhea
Villous atrophy, Gastritis, Bloody diarrhea, Colitis, Hepatoblastoma, Dependency on intravenous n... ORPHA:84064
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Perianal derm... OMIM:619573
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re... ORPHA:331235
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Alg9-Cdg
Villous atrophy, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula ORPHA:79328
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Villous atrophy, Hepatic failure, Bifid uvula OMIM:222470
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Crohn's disease OMIM:619705
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Hepatic failure, Abdominal pain ORPHA:567983
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Familial Mediterranean Fever
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c... OMIM:249100
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, Protein-losing ent... OMIM:608104
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Hepatitis, Gastrointestinal inflammation, Hepatocellular ca... ORPHA:186
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... OMIM:301074
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Gastrointestinal inflammation ORPHA:79410
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Crohn's disease OMIM:619632
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Endocarditis, Septic art... ORPHA:449280
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis OMIM:619652
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Feeding difficulties OMIM:618154
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abdominal pain, High, narrow palate, Rectal prolapse, Adenomatous co... ORPHA:79076
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... ORPHA:1199
Pgm3-Cdg
Lactose intolerance, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rh... ORPHA:443811
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... ORPHA:2538
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Gastrointestinal inflam... ORPHA:79404
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Gastrointestinal infla... ORPHA:79408
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... ORPHA:913
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99226
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Feeding difficultie... ORPHA:512
Multiple Endocrine Neoplasia, Type I
Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis OMIM:131100
Fraser Syndrome 1
Abnormal small intestine morphology, 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

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
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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