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Gene: Mgat4d MGI:1914805

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Gene Summary

Name:
MGAT4 family, member C
Synonyms:
4933434I20Rik

Order Alleles

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 esophagus morphology Mgat4dtm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal spleen morphology Mgat4dtm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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

VIP of right fundus

16 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Forepaw

7 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of left eye

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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Histopathology

Images

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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Human diseases caused by Mgat4d 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 Mgat4d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension OMIM:617068
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Retinitis Pigmentosa 89
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... OMIM:618955
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis ORPHA:75234
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... ORPHA:131
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosi... OMIM:617341
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Anemia ORPHA:75233
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity OMIM:615190
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia OMIM:616553
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Glycogen Storage Disease Iv
Cirrhosis, Esophageal varix, Portal hypertension, Hepatosplenomegaly OMIM:232500
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Portal hypertension, Jaundice, Esophageal varix, Cholestasis, Sclerosing cholangiti... OMIM:619662
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Dysphagi... OMIM:226600
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Plummer-Vinson Syndrome
Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,... ORPHA:54028
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity OMIM:615272
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... ORPHA:2357
Cirrhosis, Familial
Fulminant hepatitis, Jaundice, Esophageal varix, Biliary cirrhosis, Micronodular cirrhosis, Cirrh... OMIM:215600
Adams-Oliver Syndrome 5
Portal vein thrombosis, Splenomegaly, Esophageal varix, Hypersplenism OMIM:616028
Caroli Syndrome
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Hematemesis, C... ORPHA:480520
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Splenomegaly, Esophageal varix, Cholestasis, Inflammation of the larg... OMIM:614576
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... ORPHA:1018
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Esophageal stricture, Anemia, Gastroesophageal reflux, Dysphag... ORPHA:89842
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia OMIM:613706
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, I... OMIM:216360
Feingold Syndrome
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia ORPHA:1305
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cirrhosis ORPHA:367
Aspergillosis
Eosinophilia, Hepatitis, Abnormal esophagus morphology, Neutropenia ORPHA:1163
Methimazole Embryofetopathy
Esophageal atresia, Tracheoesophageal fistula ORPHA:1923
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Esophageal varix, Hepatocellular a... ORPHA:264580
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Leukopenia, Hepatic fibrosis, Bone marrow hy... OMIM:613989
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the splee... ORPHA:2538
Ectodermal Dysplasia/Short Stature Syndrome
Esophageal stricture, Dysphagia OMIM:616029
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Anal atresia, Cleft palate ORPHA:95706
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Coffin-Siris Syndrome 11
Esophageal atresia, High palate, Bifid uvula, Cleft soft palate OMIM:618779
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... ORPHA:974
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Portal hypertension, Congenital hepatic fibrosis, Esoph... ORPHA:84081
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit... OMIM:224230
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor... ORPHA:1775
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Esophageal varix, He... OMIM:615688
Rhombencephalosynapsis
Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia ORPHA:59315
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga... OMIM:250250
Mirage Syndrome
Thrombocytopenia, Esophageal stricture, Hypoplastic spleen, Leukopenia, Gastroesophageal reflux, ... OMIM:617053
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... ORPHA:309854
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... ORPHA:252164
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia OMIM:300514
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha... ORPHA:774
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... OMIM:164280
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate OMIM:614526
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:314390
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia OMIM:619227
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Esophageal stricture ORPHA:158673
Immunodeficiency 12
Esophageal stricture, Abnormal lymphocyte count OMIM:615468
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Vacuolated lym... ORPHA:275761
Wilson Disease
Hemolytic anemia, Hepatomegaly, Hepatocellular carcinoma, Thrombocytopenia, Atypical or prolonged... OMIM:277900
Phosphoribosylaminoimidazole Carboxylase Deficiency
Esophageal atresia, Tracheoesophageal fistula OMIM:619859
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Esophageal atresia, Tracheoesophageal fistula ORPHA:77298
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Tracheoesophageal fistula, Cleft palate ORPHA:3157
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Esophageal stricture, High palate, Neutropenia, Lymphopenia OMIM:615816
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Esophageal stenosis, Dysphagia OMIM:615510
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal varix, Hepato... ORPHA:2072
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellularity, Anal at... OMIM:614083
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Intestinal malrotation, Portal hypertension, Esophageal varix, Cholestasis, Gastroe... OMIM:613658
Fanconi Anemia, Complementation Group D2
Pancytopenia, Esophageal atresia, Thrombocytopenia, Tracheoesophageal fistula, Reticulocytopenia,... OMIM:227646
Chronic Graft Versus Host Disease
Pancytopenia, Esophageal stricture, Xerostomia, Abnormal esophagus morphology, Gastroesophageal r... ORPHA:99921
Apert Syndrome
Esophageal atresia, Cleft palate, Narrow palate, Ectopic anus, Bifid uvula ORPHA:87
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix, High palate ORPHA:394
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia OMIM:173650
Mandibulofacial Dysostosis, Guion-Almeida Type
Esophageal atresia, Cleft palate OMIM:610536
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Esophageal stricture, ... ORPHA:36426
Arima Syndrome
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Anal atresia OMIM:617925
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cle... OMIM:229850
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... OMIM:265380
Feingold Syndrome Type 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia ORPHA:391641
Kindler Epidermolysis Bullosa
Esophageal stricture, Inflammation of the large intestine, Colitis, Esophagitis, Dysphagia, Anemi... ORPHA:2908
Apert Syndrome
Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Ectopic anus, Bifid uvula OMIM:101200
Vacterl With Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Anal atresia ORPHA:3412
Trisomy 18
Esophageal atresia, Narrow palate, Anal atresia, Cleft palate ORPHA:3380
Distal Deletion 12Q
High, narrow palate, Esophageal atresia, Pyloric stenosis, Biliary atresia, Annular pancreas, Mic... ORPHA:96149
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Esophageal stricture, Anal mucosal leukop... OMIM:305000
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Tracheoesophageal fistula, Bifid uvula OMIM:301030
Maternal Phenylketonuria
Esophageal atresia, High palate ORPHA:2209
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Cleft soft palate, Portal hypertension, Esophageal varix, Cholestasis, Hepatosp... OMIM:619503
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula ORPHA:95430
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Jaundice, Splenomegaly, Esophagea... OMIM:619534
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Anal fissure, Gastrointestinal inflammation, Iron deficiency anemia, Gastroesophageal reflux, Dys... ORPHA:79408
Microphthalmia, Syndromic 3
Esophageal atresia OMIM:206900
Severe Generalized Junctional Epidermolysis Bullosa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79404
Charge Syndrome
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysphagia, Lymphopeni... OMIM:214800
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration OMIM:176690
Gabriele-De Vries Syndrome
Esophageal atresia, High palate, Oral-pharyngeal dysphagia ORPHA:506358
Vater/Vacterl Association
Esophageal atresia, Tracheoesophageal fistula, Anal atresia OMIM:192350
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Esophageal atresia, Congenital hepatic fibrosis, Ectopic anus, Bifid tongue, Anal atresia ORPHA:93271
Alström Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix, Hepatitis, Hepatosplenomegaly,... ORPHA:64

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 Mgat4d

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 Mgat4d.

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

Title Journal IMPC Allele PubMed ID
The Golgi Glycoprotein MGAT4D is an Intrinsic Protector of Testicular Germ Cells From Mild Heat Stress. Scientific reports (February 2020) Mgat4dtm1a(KOMP)Wtsi PMC7005853

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
Mgat4dtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mgat4dtm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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