Gene Summary

Name:
Sec24 related gene family, member D (S. cerevisiae)
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 liver morphology Sec24dem1(IMPC)Rbrc HET Early adult 0.00
abnormal stomach 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

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
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps OMIM:175505
Polyposis, gastric
Multiple gastric polyps OMIM:175020
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Hepatocellular adenoma 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, Hepatic failure, Splenomegaly ORPHA:664
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... ORPHA:157798
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... ORPHA:234
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Gastric varix, Splenomegaly, Nodular regenerative hyp... ORPHA:64743
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Multiple gastr... ORPHA:2494
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Bronchogenic Cyst
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology ORPHA:281090
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Cirrhosis, Gastroesophag... ORPHA:779
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:301068
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Congenital shortened small intestine, Intestinal malrotation, Intestinal pseudo... OMIM:300048
Mental Retardation, Autosomal Dominant 35
Pyloric stenosis, Hypoglycemia OMIM:616355
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... ORPHA:512
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Scleroderma
Abnormal large intestine morphology, Abnormality of the small intestine, Abnormal stomach morphol... ORPHA:801
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Intestinal malrotation, Abse... OMIM:156810
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Intussusception, Duodenal aden... OMIM:174900
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, A... ORPHA:220460
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Rectovaginal fistula, Es... ORPHA:2538
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Malabsorption, Splenomegaly, Tracheoesophageal fistula, Liver abs... ORPHA:379
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... ORPHA:90291
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis OMIM:226700
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Insulin resistance, Splenomegaly, Hepatic steatosis, E... OMIM:613327
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, High palate, Cleft palate, Maturity-onset diabetes of the young, Bifid uvula ORPHA:96184
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate ORPHA:314575
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Hepatitis, Splenomegaly, Jaundice ORPHA:381
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Hypoglycemia, Frequent Giardia lamblia infestation OMIM:615577
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Congenital pyloric atresia, Esophageal atresia OMIM:226730
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancrea... ORPHA:93111
Esophageal Atresia
Pyloric stenosis, Dysphagia, Cleft palate, Maternal diabetes, Duodenal atresia, Morphological abn... ORPHA:1199
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Viss Syndrome
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... OMIM:619472
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Williams Syndrome
Rectal prolapse, Type II diabetes mellitus, Abnormal gastric mucosa morphology, Macroglossia, Mal... 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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