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
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
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Arthritis, Crypt hyperplasia OMIM:613217
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Villous atrophy OMIM:615863
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... ORPHA:95427
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
Blepharitis, Villous atrophy, Duodenitis, Pustule, Erythroderma, Bloody diarrhea OMIM:614328
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Malab... ORPHA:92050
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Prolinuria, Enterocolitis, Abdominal pain, Increased level of L-pyroglutamic ... OMIM:260005
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Chylomicron Retention Disease
Diarrhea, Vomiting, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Stea... OMIM:246700
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea, Abdominal distention ORPHA:2290
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Villous atrophy, Skin rash, Feeding difficulties in infancy, Enterocolitis, E... OMIM:616050
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea OMIM:614602
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Villous atrophy, Recurrent infection of the gastrointes... OMIM:256500
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Protracted diarrhea, Villous atrophy, Malabsorption, Infectiou... OMIM:209920
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Immunodeficiency 85 And Autoimmunity
Vomiting, Eczematoid dermatitis, Villous atrophy, Oligoarthritis, Erythroderma, Tube feeding, Chr... OMIM:619510
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Villous atrophy, Steatorrhea OMIM:602579
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Diarrhea, Malabsorption OMIM:600955
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces... ORPHA:411696
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Refractory Celiac Disease
Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, Malnutrition, Villou... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Vomiting, Diarrhea, Villous atrophy, High palate OMIM:601110
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Villous atrophy, Ileus, Erythroderma, Glomerulonephritis, Arthr... OMIM:304790
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
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
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Chronic diarrhea, Fat malabsorption, Increased fecal bile acid OMIM:613291
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Intussusception
Intussusception OMIM:147710
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Papa Syndrome
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Arthritis, Acne ORPHA:69126
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, O... OMIM:614162
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Adenomatous colonic polyposis OMIM:613244
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Anorexia, Abdominal pain, R... OMIM:619381
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczematoid dermatitis, Villous atrophy, Psoriasiform dermatitis, Erythroderma, Chronic diarrhea, ... OMIM:606367
Congenital Disorder Of Glycosylation, Type Il
Villous atrophy OMIM:608776
Osteootohepatoenteric Syndrome
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Ileoileal intussusception... OMIM:619377
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphocytic infiltr... OMIM:616100
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Vomiting, Fasciitis, Acute hepatitis, ... ORPHA:39812
Autoinflammatory-Pancytopenia Syndrome
Chronic diarrhea, Chilblains, Membranoproliferative glomerulonephritis, Intestinal inflammation OMIM:619858
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Eosinophilic Gastroenteritis
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Protein-losing enteropathy, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Vomiting, Villous atrophy, Feeding difficulties in infancy, Steatorrhea, Pericarditis OMIM:212065
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption OMIM:277175
Alpha-Heavy Chain Disease
Abdominal pain, Malabsorption, Abnormal small intestine morphology ORPHA:100025
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Villous atrophy, Malabsorption, Pun... OMIM:557000
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Esophageal stricture ORPHA:79409
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Skin rash, Perianal abscess, Gastritis, Bronchiect... OMIM:618108
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Hepatoblastoma, Gastritis, Dependency on intravenous nutri... ORPHA:84064
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Secretory diarrhea, Villous atrophy, Perianal dermatitis, In... OMIM:619573
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Cutaneous abscess, Otitis... ORPHA:331235
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Chronic diarrhea, Fat malabsorption, Steatorrhea ORPHA:309108
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Trichohepatoenteric Syndrome 1
Bifid uvula, Intractable diarrhea, Hepatic failure, Villous atrophy OMIM:222470
Alg9-Cdg
Bifid uvula, Vomiting, Diarrhea, Gastroesophageal reflux, Villous atrophy ORPHA:79328
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... OMIM:175500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Crohn's disease OMIM:619705
Parenteral Nutrition-Associated Cholestasis
Abdominal pain, Hepatic failure, Villous atrophy ORPHA:567983
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abdominal pain, Hy... OMIM:611376
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Chronic constipation, Crohn's disease, Orchitis, Episodic abdomin... OMIM:249100
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func... ORPHA:79319
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Decreased liver function, Elevated circulating cr... OMIM:608104
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Malabsorption, Jej... OMIM:615710
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Primary Biliary Cholangitis
Hepatic failure, Hepatitis, Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Cel... ORPHA:186
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol... ORPHA:90291
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Crohn's disease OMIM:619632
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic ar... ORPHA:449280
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Cholangitis, Chronic diarrhea OMIM:619652
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Feeding difficulties OMIM:618154
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Gastrointestinal hemorrhage, Intestinal bleeding... ORPHA:79076
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Intestinal malr... ORPHA:1199
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Esophagitis ORPHA:3348
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia,... ORPHA:95455
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Gastroesophageal reflux, Bronchiectasi... ORPHA:443811
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia... ORPHA:2538
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastroesophageal reflux, Malnutrition, Anal fissure, Ankyloglossia, Glomerulonephritis, Gastroint... ORPHA:79408
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Vomiting, Malnutrition, Pyoderma, Constipation, Gastrointestinal inflammation, Recurre... ORPHA:79404
Whim Syndrome
Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal small intestine morphology, Ot... ORPHA:51636
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Esophagitis, Intestinal obstru... ORPHA:913
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Hematochezia, Colon... ORPHA:2929
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... ORPHA:2908
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99413
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Recurrent otitis media, Gastrointestina... ORPHA:99226
Metachromatic Leukodystrophy
Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, N... ORPHA:512
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Esophagitis, Zollinger-Ellison syndrome OMIM:131100
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormality of the anus, Cleft palate 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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