Gene Summary

Name:
ring finger protein 144A
Synonyms:
UIP4,  Rnf144

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
decreased circulating chloride level Rnf144aem1(IMPC)Tcp HOM Early adult 3.58×10-05
abnormal stomach morphology Rnf144aem1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

1 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

Histopathology

Images

1 Images

Human diseases caused by Rnf144a 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 Rnf144a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Gastric Cancer
Stomach cancer OMIM:613659
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Elevated stool chloride content, Hypochloremia, Increased circulating renin level, H... OMIM:214700
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:613090
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Alpha-1-Antitrypsin Deficiency
Gastric varix, Reduced circulating alpha-1-antitrypsin concentration, Hepatocellular carcinoma OMIM:613490
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:602522
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... ORPHA:157798
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia ORPHA:89938
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... ORPHA:2494
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Intrinsic Factor Deficiency
Absence of intrinsic factor, Reduced haptoglobin level OMIM:261000
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia ORPHA:664
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:241200
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Hypokalemia, Colon cancer, Hematochezia, Hypoalbuminemi... OMIM:174900
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Abnormal circulating eicosanoid concentration, Decreased circulating 12-HETE, Eso... OMIM:618372
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Conjugated hyperbilirubinemia ORPHA:234
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Hyperbilirubinemia, Hepatocellular carcinoma, Esophag... ORPHA:64743
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Pyloric stenosis, Hypoalbuminemia OMIM:256300
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Esophageal varix OMIM:620367
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... ORPHA:2538
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Metachromatic Leukodystrophy
Abnormal stomach morphology, Intussusception, Neoplasm of the gallbladder, Abnormal duodenum morp... ORPHA:512
Hardikar Syndrome
Hematemesis, Gastric varix, Cleft soft palate, Hyperbilirubinemia, Bilateral cleft palate, Esopha... OMIM:301068
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Congenital pyloric atresia ORPHA:158684
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Williams Syndrome
Abnormal circulating lipid concentration, Peptic ulcer, Rectal prolapse, Gastroesophageal reflux,... ORPHA:904

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 Rnf144a

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 Rnf144a.

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

Title Journal IMPC Allele PubMed ID
RNF144A deficiency promotes PD-L1 protein stabilization and carcinogen-induced bladder tumorigenesis. Cancer letters (August 2021) Rnf144atm1a(KOMP)Wtsi PMC9420248

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MGI Allele Allele Type Produced
Rnf144aem1(IMPC)Tcp Exon Deletion Mice, Tissue
Rnf144atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rnf144atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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