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Gene: Slc49a4 MGI:2387188

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Gene Summary

Name:
solute carrier family 49 member 4
Synonyms:
Dirc2,  RCC4

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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 Slc49a4em1(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Slc49a4em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Slc49a4em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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Human diseases caused by Slc49a4 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 Slc49a4 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
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Intussusception
Intussusception OMIM:147710
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... ORPHA:93932
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Bannayan-Riley-Ruvalcaba Syndrome
Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, Intestinal polyposis ORPHA:109

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 Slc49a4

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 Slc49a4.

No publications found that use IMPC mice or data for Slc49a4.

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
Slc49a4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc49a4em1(IMPC)Mbp Exon Deletion Mice
Slc49a4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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