Gene Summary

Name:
SEC24 homolog D, COPII coat complex component
Synonyms:
LOC383951,  2310020L09Rik

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
abnormal stomach morphology Sec24dem1(IMPC)Rbrc HET Early adult 0.00
abnormal liver morphology Sec24dem1(IMPC)Rbrc HET Early adult 0.00
preweaning lethality, complete penetrance Sec24dem1(IMPC)Rbrc HOM   Early adult 0.00
impaired glucose tolerance Sec24dem1(IMPC)Rbrc HET Early adult 5.79×10-10

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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

4 Images

Human diseases caused by Sec24d 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 Sec24d by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cole-Carpenter Syndrome 2
High palate OMIM:616294
Cole-Carpenter Syndrome
ORPHA:2050

The table below shows human diseases predicted to be associated to Sec24d by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Gastric Cancer
Stomach cancer OMIM:613659
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young OMIM:142330
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hepatic failure, Hypoglycemia ORPHA:664
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Gastric varix OMIM:613490
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... ORPHA:234
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, An... OMIM:615710
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Pancreatic Agenesis 2
Diabetes mellitus, Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancrea... OMIM:615935
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... ORPHA:2357
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Reynolds Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ... ORPHA:779
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach ORPHA:618
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Muir-Torre Syndrome
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm ORPHA:587
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the splee... ORPHA:2538
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... ORPHA:512
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Malabsorption, Pyloric stenosis, Splenomegaly, Tracheoesophageal fis... ORPHA:379
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Pyloric stenosis, Insulin resistance, Ileus, Hyperin... OMIM:613327
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia ... ORPHA:93111
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Maternal diabetes, Pyloric stenosis, Gastrointestinal ... ORPHA:1199
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric ulcer, Gastric hypertrophy OMIM:161700
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Williams Syndrome
Colonic diverticula, Peptic ulcer, Malabsorption, Abnormal gastric mucosa morphology, Rectal prol... ORPHA:904
Cole-Carpenter Syndrome 2
High palate OMIM:616294
Cole-Carpenter Syndrome
ORPHA:2050

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 Sec24d

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 Sec24d.

No publications found that use IMPC mice or data for Sec24d.

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
Sec24dtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sec24dem1(IMPC)Rbrc Exon Deletion Mice
Sec24dtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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