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Gene: Mep1a MGI:96963

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Gene Summary

Name:
meprin 1 alpha
Synonyms:
meprin A alpha-subunit,  Mep1,  Mep-1,  meprin alpha,  Mep-1a

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
decreased total body fat amount Mep1atm1a(KOMP)Wtsi HOM Early adult 4.27×10-05
increased bone mineral content Mep1atm1a(KOMP)Wtsi HOM Early adult 5.15×10-07
decreased fasting circulating glucose level Mep1atm1a(KOMP)Wtsi HOM Early adult 1.70×10-06
abnormal bone structure Mep1atm1a(KOMP)Wtsi HOM Early adult 6.15×10-06

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Viewing: all phenotypes
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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.

DSS Histology

Images

7 Images

View images
Legacy Phenotype Associated Images
Mep1atm1a(KOMP)Wtsi
WT, Female, WTSI
Mep1atm1a(KOMP)Wtsi
WT, Female, WTSI
Mep1atm1a(KOMP)Wtsi
WT, Female, WTSI
Mep1atm1a(KOMP)Wtsi
WT, Female, WTSI
Mep1atm1a(KOMP)Wtsi
WT, Female, WTSI

View all 16 images

Mep1atm1a(KOMP)Wtsi
head, abnormal snout morphology, short snout, HOM, Male, WTSI
Mep1atm1a(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Male, WTSI
Mep1atm1a(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI
Mep1atm1a(KOMP)Wtsi
abnormal snout morphology, asymmetric snout, head, HOM, Female, WTSI
Mep1atm1a(KOMP)Wtsi
abnormal snout morphology, head, asymmetric snout, HOM, Male, WTSI

Human diseases caused by Mep1a 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 Mep1a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Interstitial Cystitis
Dyspareunia, Abnormality of the menstrual cycle, Abnormality of the urethra, Urinary bladder infl... ORPHA:37202
Lymphoproliferative Syndrome, X-Linked, 2
Fever, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased circula... OMIM:300635
Malakoplakia
Fever, Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abnormality of the ... ORPHA:556
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... OMIM:617006
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea OMIM:619398
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Abnormal natural kille... OMIM:613101
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,... OMIM:617744
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Renal dysplasia, Nausea and vomiting, Recurrent skin infections, Urinary blad... ORPHA:79403
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Autoinflammation With Infantile Enterocolitis
Fever, Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Reduced... OMIM:616050
5-Oxoprolinase Deficiency
Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-py... OMIM:260005
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Thrombotic Thrombocytopenic Purpura
Fever, Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Decreased serum cre... ORPHA:54057
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid... OMIM:619468
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 60 And Autoimmunity
Fever, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Col... OMIM:618394
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Vomiting, I... OMIM:617872
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... ORPHA:85450
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, ... OMIM:617638
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea, Decreased circulatin... OMIM:619281
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large intestine, Crohn's di... OMIM:615767
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin r... ORPHA:542323
Familial Hemophagocytic Lymphohistiocytosis
Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exa... ORPHA:540
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Arthritis, Coliti... OMIM:604416
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Anorexia, Retrograde ejaculation, Hashimot... ORPHA:49041
Malaria
Fever, Nausea and vomiting, Elevated circulating C-reactive protein concentration, Hyperbilirubin... ORPHA:673
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Preeclampsia
Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic ki... ORPHA:275555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Immunodeficiency 97 With Autoinflammation
Fever, Recurrent urinary tract infections, Hypertriglyceridemia, Recurrent skin infections, Eczem... OMIM:619802
Relapsing Fever
Fever, Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Elevated ... ORPHA:91547
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Elevated circulating crea... OMIM:614723
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency, Common Variable, 7
Fever, Recurrent urinary tract infections, Chronic (near) absent circulating IgG4, Chronic diarrh... OMIM:614699
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Fever, Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated ... OMIM:301074
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Dysuria, Eczema, Allergic r... OMIM:618131
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col... ORPHA:37042
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal stricture... ORPHA:99921
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increased circulating IgE... ORPHA:98813
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... OMIM:209920
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... OMIM:616733
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Fever, Foamy urine, Proteinuria, Minimal change glomerulonephritis, ... ORPHA:656
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Fever, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal chang... ORPHA:567548
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Papa Syndrome
Fever, Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Increase... ORPHA:69126
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... ORPHA:79233
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... OMIM:613095
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fever, Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:324964
Pyoderma Gangrenosum
Fever, Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody lev... ORPHA:48104
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Episodic vom... OMIM:612736
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Dopamine Beta-Hydroxylase Deficiency
Hypothermia, Diarrhea, Elevated urinary dopamine level, Elevated circulating creatinine concentra... ORPHA:230
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Recurre... OMIM:613960
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Recurrent fever OMIM:616744
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Alpha-Heavy Chain Disease
Fever, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal pain, ... ORPHA:100025
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Fever, Ureteral duplication, Renal insufficiency, Renal dysplasia, Elevated circulating creatine ... OMIM:608836
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Vomitin... OMIM:223900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Recurrent pneumonia, Chronic di... OMIM:614700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Fever, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatini... OMIM:235400
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Myoglobinuria, Acute kid... OMIM:268200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chron... OMIM:301220
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, Pr... OMIM:608104
Congenital Primary Megaureter
Abnormal penis morphology, Fever, Recurrent urinary tract infections, Abnormality of the upper ur... ORPHA:617
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ... ORPHA:439232
Hemophagocytic Lymphohistiocytosis, Familial, 4
Fever, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Conjunctivi... OMIM:603552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... OMIM:201475
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Drug-Induced Lupus Erythematosus
Fever, Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-r... ORPHA:231111
Amoebiasis Due To Entamoeba Histolytica
Fever, Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody dia... ORPHA:67
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Bone marrow hypocellularity, Esophageal stenosis, Decreased circulating antibody level OMIM:615190
Pauci-Immune Glomerulonephritis
Fever, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Glomeruloneph... ORPHA:93126
Focal Myositis
Fever, Myositis, Elevated circulating creatine kinase concentration ORPHA:48918
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, C... OMIM:154230
Familial Cold Autoinflammatory Syndrome 1
Fever, Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Arthritis, Conj... OMIM:120100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Thrombotic Thrombocytopenic Purpura, Hereditary
Fever, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Inc... OMIM:274150
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, Fu... ORPHA:29073
Mu-Heavy Chain Disease
Fever, Nephropathy, Increased circulating antibody level, Bence Jones Proteinuria ORPHA:100024
Sepsis In Premature Infants
Fever, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Impaired T cell fu... OMIM:614576
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Immunodeficiency 69
Fever, Increased circulating ferritin concentration, Diarrhea, Skin rash OMIM:618963
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar... ORPHA:544482
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Feeding difficulties, Constipation... OMIM:618885
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... OMIM:620085
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Abdominal pain, Intestinal perforation, Peritonitis, Rectal prolapse, Eleva... ORPHA:90038
Trichohepatoenteric Syndrome 2
Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepat... OMIM:614602
Immunodeficiency 27A
Fever, Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Increased circulating IgG ... OMIM:209950
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoal... OMIM:619381
Immunodeficiency 40
Rectal fistula, Recurrent pneumonia, Chronic diarrhea, Interstitial pneumonitis, Reduced antigen-... OMIM:616433
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Igg4-Related Aortitis
Fever, Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level,... ORPHA:449400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Chroni... OMIM:615895
Reticular Dysgenesis
Fever, Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Chronic otitis m... ORPHA:33355
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Thymoma
Fever, Myositis, Glomerulonephritis, Ulcerative colitis, Decreased circulating antibody level, Rh... ORPHA:99867
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Fever, Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneum... OMIM:618935
Acute Interstitial Pneumonia
Fever, Elevated circulating creatinine concentration, Bronchiectasis, Elevated circulating C-reac... ORPHA:79126
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Tu... ORPHA:340
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Fever, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Protracted di... ORPHA:169160
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Anorexia, Sterile pyuria, Renal interstiti... ORPHA:91500
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Diffuse Alveolar Hemorrhage
Hematuria, Fever, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Central Diabetes Insipidus
Hyponatremia, Fever, Nausea and vomiting, Anorexia, Diarrhea, Nocturia ORPHA:178029
Juvenile Nephropathic Cystinosis
Poor appetite, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weigh... ORPHA:411634
Autosomal Agammaglobulinemia
Fever, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, B... ORPHA:33110
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 105
Fever, Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decrease... OMIM:619924
Coach Syndrome 2
Hyperechogenic kidneys, Elevated circulating creatinine concentration OMIM:619111
Acute Lung Injury
Fever, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated... ORPHA:178320
Malignant Hyperthermia, Susceptibility To, 2
Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, ... OMIM:154275
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Premature ova... ORPHA:3261
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Periodic fev... ORPHA:2686
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, Hyperph... OMIM:145600
Cocaine Intoxication
Fever, Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Abdom... ORPHA:90068
Malignant Hyperthermia, Susceptibility To, 3
Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, ... OMIM:154276
Immunodeficiency 32B
Fever, Sinusitis, Pneumonia, Bronchiectasis, Impaired oxidative burst, Hypoalbuminemia, Abnormal ... OMIM:226990
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... ORPHA:99826
Macrophage Activation Syndrome
Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypert... ORPHA:158061
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Systemic-Onset Juvenile Idiopathic Arthritis
Fever, Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concent... ORPHA:85414
X-Linked Agammaglobulinemia
Fever, Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption,... ORPHA:47
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Yellow Fever
Fever, Increased circulating interleukin 6 concentration, Anuria, Renal insufficiency, Elevated c... ORPHA:99829
Boutonneuse Fever
Fever, Renal insufficiency, Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Increas... ORPHA:83313
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis... ORPHA:79259
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine ORPHA:46488
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Fever, Hyperkalemia, Increased circulating renin level, Vomiting, Renal sodium wasting ORPHA:556037
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Genetic Recurrent Myoglobinuria
Dark urine, Fever, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myogl... ORPHA:99845
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Inflammatory Pseudotumor Of The Liver
Fever, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Increased hepatitis ... ORPHA:90003
Glycogen Storage Disease Due To Aldolase A Deficiency
Fever, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kidney injury ORPHA:57
Urachal Cyst
Fever, Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abdominal pain, Pe... ORPHA:488
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Villous atrophy, Eczema, Diarrhea, Functional abnormality o... ORPHA:391487
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Generalized Pustular Psoriasis
Hyponatremia, Fever, Renal insufficiency, Elevated circulating C-reactive protein concentration, ... ORPHA:247353
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine c... ORPHA:247691
Lassa Fever
Fever, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Diarrhea, Oliguria, Increased circu... ORPHA:99824
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... ORPHA:90363
Orthostatic Hypotension 1
Intermittent hypothermia, Increased blood urea nitrogen, Retrograde ejaculation, High palate, Hyp... OMIM:223360
Pfapa Syndrome
Nausea and vomiting, Abnormality of temperature regulation, Malabsorption, Abdominal pain, Arthri... ORPHA:42642
Glycogen Storage Disease Ib
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammat... OMIM:232220
Adult-Onset Still Disease
Fever, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration, Abdominal ... ORPHA:829
Psoriasis 14, Pustular
Fever, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactive protein concentratio... OMIM:614204
Glucose-Galactose Malabsorption
Fever, Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperact... ORPHA:35710
Nephrogenic Diabetes Insipidus
Fever, Nausea and vomiting, Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of... ORPHA:223
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Esophagitis, Par... OMIM:619652
Dubin-Johnson Syndrome
Fever, Abnormal urinary color, Abdominal pain, Conjugated hyperbilirubinemia, Abnormal gastric mu... ORPHA:234
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Sickle Cell Anemia
Osteomyelitis, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Decreased LDL choles... OMIM:615947
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Polyembryoma
Fever, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention... ORPHA:180229
Primary Sclerosing Cholangitis
Fever, Acute hepatic failure, Renal insufficiency, Cholangiocarcinoma, Abnormal large intestine p... ORPHA:171
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Renal hypoplasia, Bloody diarrhea, Colitis, Polycysti... ORPHA:84064
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Fever, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Abdomina... ORPHA:54251
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Bloody dia... OMIM:617718
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hepatoblastoma, Chronic pancreatitis, Hyperlipidemia, Gout, Hem... OMIM:232240
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, C... OMIM:618999
Wiskott-Aldrich Syndrome
Eczema, Increased circulating IgA level, Reduced natural killer cell activity, Hematemesis, Diarr... OMIM:301000
Ebola Hemorrhagic Fever
Fever, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, A... ORPHA:319218
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Fever, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U... ORPHA:48435
Tyrosinemia, Type I
Hypertyrosinemia, Fever, Renal insufficiency, Acute hepatic failure, Gastrointestinal hemorrhage,... OMIM:276700
Beta-Thalassemia
Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Hepatitis, Abnormality of i... ORPHA:848
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Abnormality of temperature regu... OMIM:618161
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Abdominal pain, Hematochezia, Inflammation of the large intestine, Colitis OMIM:203300
Immunodeficiency 22
Fever, Pericarditis, Diarrhea, Protracted diarrhea, Decreased circulating total IgM, Panniculitis... OMIM:615758
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... OMIM:620133
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fever, Abdominal pain, Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosp... OMIM:300908
Kindler Epidermolysis Bullosa
Urethral stricture, Recurrent skin infections, Phimosis, Esophageal stricture, Neoplasm of the ur... ORPHA:2908
Malignant Hyperthermia Of Anesthesia
Fever, Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Malignant hy... ORPHA:423
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Villous atrophy, Elevated ci... OMIM:619573
Sarcoidosis, Susceptibility To, 1
Fever, Abnormality of T cell physiology, Anorexia, Iridocyclitis, Hypercalciuria, Uveitis, Bronch... OMIM:181000
Wiskott-Aldrich Syndrome
Fever, Glomerulopathy, Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratitis, Hemateme... ORPHA:906
Neuroleptic Malignant Syndrome
Hyponatremia, Fever, Proteinuria, Elevated circulating creatine kinase concentration, Urinary inc... ORPHA:94093
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abdo... ORPHA:793
Fumarase Deficiency
Necrotizing enterocolitis, Increased urine succinate level, Bilateral fetal pyelectasis, Elevated... OMIM:606812
Cockayne Syndrome Type 1
Renal insufficiency, Abnormality of temperature regulation, Proteinuria, Cryptorchidism, Diarrhea... ORPHA:90321
Reactive Arthritis
Fever, Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, ... ORPHA:29207
Idiopathic Hypereosinophilic Syndrome
Fever, Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficu... ORPHA:3260
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Neurogenic bladder, Abnormality of temperature regulation, Gastrostomy tube feeding in infancy OMIM:619173
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Bartter Syndrome, Type 1, Antenatal
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wa... OMIM:601678
Chronic Mucocutaneous Candidiasis
Dyspareunia, Recurrent urinary tract infections, Abnormality of temperature regulation, Skin rash... ORPHA:1334
Caroli Disease
Fever, Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Conjugated hyperbilirubinemia, ... ORPHA:53035
Familial Mediterranean Fever
Acute hepatic failure, Osteoarthritis, Nephrocalcinosis, Gastrointestinal infarctions, Nephropath... ORPHA:342
Cirrhosis, Familial
Fever, Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of L-fucose i... OMIM:215600
Brucellosis
Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthritis, Increased c... ORPHA:1304
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation, Decreased circulating copper concentration, Urinary... ORPHA:139417
Bartter Syndrome, Type 2, Antenatal
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increase... OMIM:241200
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Plague
Fever, Chapped lip, Glossitis, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenit... ORPHA:707
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Esophageal spasms, Decreased serum iron, Odyno... ORPHA:447
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Machado-Joseph Disease Type 1
Neurogenic bladder, Abnormality of temperature regulation, Dysphagia ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Abnormality of temperature regulation, Dysphagia ORPHA:276241
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal... OMIM:617671
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Bronchiectasis, Inflammation of the large intestine, Rectovaginal... OMIM:619708
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Menorrhagia ORPHA:331
Machado-Joseph Disease Type 3
Neurogenic bladder, Abnormality of temperature regulation, Dysphagia ORPHA:276244
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Ulnar-Mammary Syndrome
Hypoplasia of penis, Abnormality of temperature regulation, Cryptorchidism, Pyloric stenosis, Dec... ORPHA:3138
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia, Constipation OMIM:618493
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Ulcerative... OMIM:617137
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Increased HDL cholesterol concentration, Elev... ORPHA:70591
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating ferritin co... OMIM:619534
Mowat-Wilson Syndrome
Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Vesicoureteral r... ORPHA:2152
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Ectopic kid... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Ectopic kid... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Ectopic kid... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Ectopic kid... ORPHA:99226
Deeah Syndrome
Abnormality of temperature regulation, Malabsorption, Cryptorchidism, Chronic diarrhea, Narrow pa... OMIM:619004
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Feeding difficulties, Smooth tongue, Dysphagia, Rec... OMIM:601559
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Hydroureter, Abnormality of temperature regulation, Abnormality of the kidney, Abno... ORPHA:2273
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation, Aganglionic megacolon, Feeding difficulties, Chronic const... OMIM:209880
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation, Hypophosphatemia, Hypocalcemia, Chronic rhinitis, Otitis m... ORPHA:667

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 Mep1a

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 Mep1a.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Mep1atm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Mep1atm1a(KOMP)Wtsi PMC6671969
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Mep1atm1a(KOMP)Wtsi PMC5827107

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
Mep1atm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Mep1atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Mep1atm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mep1atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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