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Gene: Sec24d MGI:1916858

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Gene Summary

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

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

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

4 Images

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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
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver DECIPHER:47
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
Pyloric stenosis, Hypoglycemia, Splenomegaly, Hepatic failure ORPHA:664
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Gastric varix, Splenomegaly OMIM:613490
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology ORPHA:2978
Serrated Polyposis Syndrome
Gastric diverticulum, Pancreatic adenocarcinoma, Colorectal polyposis, Neoplasm of the large inte... ORPHA:157798
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... ORPHA:234
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Fundic gland polyposis, Melena OMIM:619182
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Elevated... ORPHA:64743
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... OMIM:615710
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Glucos... OMIM:606069
Colorectal Cancer
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma OMIM:114500
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Abnormality of the liver, Neoplasm of the gastrointestinal tract, Esopha... ORPHA:44890
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... ORPHA:1876
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... ORPHA:552
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... ORPHA:2494
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic in... OMIM:615935
Bronchogenic Cyst
Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Esophageal stenosis OMIM:619817
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Intrinsic Factor Deficiency
Absence of intrinsic factor OMIM:261000
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Jaundice, Xerostomia, Hep... ORPHA:779
Hardikar Syndrome
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac... OMIM:301068
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... ORPHA:512
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Colon... OMIM:174900
Microgastria-Limb Reduction Defect Syndrome
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... ORPHA:2538
Scleroderma
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:801
Systemic Sclerosis
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... ORPHA:90291
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... ORPHA:220460
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Chronic Granulomatous Disease
Malabsorption, Liver abscess, Pyloric stenosis, Tracheoesophageal fistula, Hepatomegaly, Splenome... ORPHA:379
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Pyloric stenosis, Insulin resistance, Elevated hepatic transaminase, Hepatic st... OMIM:613327
Congenital Tracheal Stenosis
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... ORPHA:141127
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Pyloric stenosi... ORPHA:93111
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Esophageal Atresia
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1199
Junctional Epidermolysis Bullosa With Pyloric Atresia
Congenital pyloric atresia, Intestinal atresia ORPHA:79403
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Viss Syndrome
Gastroesophageal reflux, High palate, Cleft soft palate, Bifid tongue, Bifid uvula, Macroglossia,... OMIM:619472
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Williams Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Peptic ulcer, Colonic diverticula, M... 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.

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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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