Gene Summary

Name:
mediator complex subunit 28
Synonyms:
1500003D12Rik,  Eg1,  magicin

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 auditory brainstem response Med28tm1.1(KOMP)Vlcg HET   Early adult 2.90×10-06
abnormal spleen morphology Med28tm1.1(KOMP)Vlcg HET Early adult 0.00
increased body length Med28tm1.1(KOMP)Vlcg HET Early adult 4.07×10-30
small spleen Med28tm1.1(KOMP)Vlcg HET Early adult 0.00
embryonic lethality prior to organogenesis Med28tm1.1(KOMP)Vlcg HOM   E9.5 0.00
embryonic lethality prior to tooth bud stage Med28tm1.1(KOMP)Vlcg HOM   E12.5 0.00
preweaning lethality, complete penetrance Med28tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal embryo size Med28tm1.1(KOMP)Vlcg HET E9.5 0.00
decreased circulating serum albumin level Med28tm1.1(KOMP)Vlcg HET Early adult 4.52×10-05

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Cecum  Section images heterozygote 75% (3 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Section images heterozygote 75% (3 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Eye  Section images heterozygote 50% (2 of 4)
Harderian gland  Section images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 75% (3 of 4)
Jejunum  Section images heterozygote 50% (2 of 4)
Kidney  Wholemount images  Section images heterozygote 100% (4 of 4)
Liver  Wholemount images  Section images heterozygote 100% (4 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images  Section images heterozygote 100% (4 of 4)
Pancreas  Wholemount images  Section images heterozygote 50% (2 of 4)
Pituitary gland  Wholemount images  Section images heterozygote 75% (3 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Quadriceps  Section images heterozygote 25% (1 of 4)
Spinal cord  Wholemount images  Section images heterozygote 75% (3 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Sublingual gland  Section images heterozygote 25% (1 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thyroid gland  Wholemount images heterozygote 25% (1 of 4)
Trachea  Wholemount images  Section images heterozygote 75% (3 of 4)
Urinary bladder  Wholemount images  Section images heterozygote 75% (3 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 25% (1 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 75% (3 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 75% (3 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 25% (1 of 4)
Tongue N/A heterozygote 50% (2 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 25% (1 of 4)
Vagina N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 7)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 7)
Embryo N/A heterozygote 28.57% (2 of 7)
Eye N/A heterozygote 28.57% (2 of 7)
Footplate N/A heterozygote 0.0% (0 of 7)
Forebrain N/A heterozygote 0.0% (0 of 7)
Forelimb N/A heterozygote 28.57% (2 of 7)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 7)
Head N/A heterozygote 0.0% (0 of 7)
Heart N/A heterozygote 28.57% (2 of 7)
Hindbrain N/A heterozygote 0.0% (0 of 7)
Hindlimb N/A heterozygote 28.57% (2 of 7)
Liver N/A heterozygote 0.0% (0 of 7)
Lung N/A heterozygote 0.0% (0 of 7)
Mandibular process N/A heterozygote 28.57% (2 of 7)
Maxillary process N/A heterozygote 28.57% (2 of 7)
Midbrain N/A heterozygote 0.0% (0 of 7)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 7)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 7)
Tail N/A heterozygote 0.0% (0 of 7)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood 0.0%
bone marrow 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cecum 5.8% (22 of 379)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
chest bone Unavailable
colon 15.83% (22 of 139)
diaphragm 0.0%
duodenum 3.68% (5 of 136)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.72% (1 of 138)
heart 0.34% (2 of 588)
hindlimb 0.0%
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
ileum 13.97% (19 of 136)
jejunum 8.63% (12 of 139)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 319)
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
tongue 3.65% (5 of 137)
trachea 0.51% (3 of 591)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.34% (2 of 589)
vagina 0.0%
vas deferens 4.64% (18 of 388)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.69% (1 of 59)
brain 1.25% (6 of 479)
central nervous system ganglion 1.49% (1 of 67)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
gut 1.75% (1 of 57)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
nose 1.41% (1 of 71)
oral cavity 0.21% (1 of 470)
skeleton 1.33% (1 of 75)
skin 0.21% (1 of 474)
spinal cord 1.45% (1 of 69)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)
trachea 1.72% (1 of 58)
urinary system 1.79% (1 of 56)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

75 Images

Embryo LacZ

LacZ images wholemount

28 Images

Adult LacZ

LacZ Images Wholemount

23 Images

Human diseases caused by Med28 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 Med28 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoalbuminemia, Jaundice OMIM:617156
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Elevated circulating C-... OMIM:308240
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Hypoalb... ORPHA:507
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:267700
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis OMIM:618805
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis OMIM:619013
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Abnormal audi... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Hemolytic anemia, Hypoalbuminemia, Abnormal audi... ORPHA:529799
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Depletion of ... OMIM:251880
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia, Low-set ears, Jaundice, Abnormality of ... ORPHA:79320
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Abcd Syndrome
Polycythemia, Large for gestational age, Abnormal auditory evoked potentials, Total intestinal ag... OMIM:600501
Nephrotic Syndrome, Type 8
Sensorineural hearing impairment, Hypoalbuminemia OMIM:615244
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... OMIM:603553
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Familial Hemophagocytic Lymphohistiocytosis
Sensorineural hearing impairment, Increased circulating ferritin concentration, Cholestatic liver... ORPHA:540
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment, Cirrhosis, Hypoalbuminemia, Decreased circulating copper concen... OMIM:242150
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Mpi-Cdg
Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Portal hypertension ORPHA:79319
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Hepatomegaly, Cholestasis, Elevated circulating creatinine concentration, Hypoalbum... OMIM:608104
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Cirrhosis, Hepatic fibrosis, Hypoalbuminemia, Lymphangiectasis OMIM:602579
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... ORPHA:247585
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat... ORPHA:90362
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi... ORPHA:2070
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia OMIM:617575
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia,... ORPHA:86816
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Hyp... ORPHA:567548
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
S-Adenosylhomocysteine Hydrolase Deficiency
Hepatocellular carcinoma, Abnormal circulating methionine concentration, Elevated circulating cre... ORPHA:88618
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis,... ORPHA:292
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Hypoalbuminemia, Portal hypertension ORPHA:367
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Hyperbilirubinemia, Hyperammonemi... ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Optic atrophy, Hypoalbu... OMIM:617303
Genetic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypoalbuminemia ORPHA:656
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Orthostatic hypotension, Cirrhosis, Hepatocellular carc... ORPHA:186
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... OMIM:619313
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatosplenomegaly, Optic atrophy, Acute pancreatitis, Hemolytic anemia, Hepatic fi... OMIM:619487
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Wilson Disease
Increased circulating copper concentration, Hepatomegaly, Decreased nerve conduction velocity, Hy... OMIM:277900
Al Amyloidosis
Autonomic erectile dysfunction, Hepatomegaly, Abnormal autonomic nervous system physiology, Incre... ORPHA:85443
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Trichohepatoenteric Syndrome 1
Hepatomegaly, Microtia, Splenomegaly, Cirrhosis, Abnormality of the pancreas, Cholestasis, Increa... OMIM:222470
Combined Oxidative Phosphorylation Deficiency 37
Sensorineural hearing impairment, Macrovesicular hepatic steatosis, Optic atrophy, Hypoalbuminemi... OMIM:618329
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Thyroid lymphangiectasia, Perica... OMIM:235510
Leigh Syndrome With Nephrotic Syndrome
EEG with focal spikes, Hypoalbuminemia ORPHA:255249
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Amoebiasis Due To Entamoeba Histolytica
Anemia, Liver abscess, Leukocytosis, Hypoalbuminemia ORPHA:67
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Peritonitis, Elevated circulating creatine k... ORPHA:36234
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hemobilia, Hyperbilirubinemia,... ORPHA:88673
Primary Sclerosing Cholangitis
Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:171
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, R... ORPHA:14
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hypocholesterolemia, Hepatic fibrosis, Hypoalbuminemia, Macrotia, H... OMIM:212065
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Low-set ears OMIM:618183
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Hypoplastic spleen ORPHA:89844
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Leukopen... ORPHA:2298
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Optic atrophy, Hypoalbuminemia, Bone marrow hypocellularity, Anem... ORPHA:505248
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Alg12-Cdg
Sensorineural hearing impairment, Abnormal pinna morphology, B lymphocytopenia, Hypocholesterolem... ORPHA:79324
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... ORPHA:89842
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Xfe Progeroid Syndrome
Optic atrophy, Hearing impairment, Hypoalbuminemia OMIM:610965
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Marburg Hemorrhagic Fever
Hypokalemia, Pancreatitis, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine... ORPHA:99826
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Lymphopenia, Cirrhosis, Decreased prealbumin level... ORPHA:90363
Galloway-Mowat Syndrome 3
Low-set ears, Hypoalbuminemia OMIM:617729
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Galloway-Mowat Syndrome 1
Optic atrophy, Low-set ears, Hypoalbuminemia, Macrotia OMIM:251300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Hypocalcemia, Cirrhosis, Cholestasis, Unconjugated hyperbilirubinemia, Portal hype... OMIM:613658
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Juvenile Polyposis Of Infancy
Refractory anemia, Low-set ears, Anemia, Hypoalbuminemia ORPHA:79076
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Cholestatic liver disease, Hepatomegaly, Splenomegaly, Cirrhosis, ... OMIM:270400
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Hyponatremia, Anemia, Thrombocytopenia, Hyperkalemia OMIM:617053
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Cholestasis, Elevated circulating cre... OMIM:619534
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Increased blood urea nitrogen, Anemia, Optic a... ORPHA:90321
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Hypomagnesemia, Hypophosphatemia, S... ORPHA:699
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatomegaly, Hepatospleno... ORPHA:79330
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Infantile Krabbe Disease
Optic atrophy, Hearing impairment, Decreased nerve conduction velocity, Prolonged brainstem audit... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... ORPHA:101085
Trisomy 10P
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Absent gallbladder, Abnormal ... ORPHA:171929
Cockayne Syndrome A
Sensorineural hearing impairment, Thymic hormone decreased, Abnormal pinna morphology, Hepatomega... OMIM:216400
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... OMIM:133540
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... ORPHA:909
Microphthalmia, Syndromic 9
Low-set ears, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Tropical Endomyocardial Fibrosis
Eosinophilia, Hepatomegaly, Hypoalbuminemia, Splenomegaly ORPHA:75565
Mend Syndrome
Elevated 8-dehydrocholesterol, Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-c... ORPHA:401973
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Macrotia OMIM:614748
Pmm2-Cdg
Abnormal pinna morphology, Impaired neutrophil chemotaxis, Hepatic fibrosis, Hypoalbuminemia, Mac... ORPHA:79318

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 Med28

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 Med28.

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

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Med28tm1.1(KOMP)Vlcg PMC5638796

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MGI Allele Allele Type Produced
Med28tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Med28tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Med28tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Med28tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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