Gene Summary

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

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
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
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

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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.

Legacy Phenotype Associated Images

View all 16 images

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
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Acute kidney injury, Pericarditis, Interstitial pneu... ORPHA:449395
Interstitial Cystitis
Abnormality of the menstrual cycle, Pollakisuria, Nocturia, Urinary bladder inflammation, Abnorma... ORPHA:37202
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Increased circulating ferritin concentration, ... OMIM:300635
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Decreased specific pneumococcal antibody level, Colitis, Nephro... OMIM:617006
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea OMIM:619398
Malakoplakia
Dysuria, Skin rash, Abnormality of the menstrual cycle, Hematuria, Urinary hesitancy, Proteinuria... ORPHA:556
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Abnormal natural killer cell physiology, Decreased ... OMIM:613101
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Elevated circulating creatinine concentration, Synov... ORPHA:567544
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Abdominal pain, Diarrhea, Decreased serum creatinine, Renal insuf... ORPHA:54057
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Renal dysplasia, Congenital pyloric atresia, Abdominal d... ORPHA:79403
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Abdominal pain, Prolinuria, Diarrhea, Vomiting, Increased level ... OMIM:260005
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Atopic dermatitis, Increased circulating IgE level, Reduced C-reactive protein... OMIM:618944
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Reduced natural killer cell activity, Vi... OMIM:616050
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Immunodeficiency 60
Bronchiectasis, Decreased circulating IgE, Chronic diarrhea, Ulcerative colitis, Colitis, Decreas... OMIM:618394
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Glo... OMIM:607665
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Colitis ORPHA:88643
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Increased circulating IgE level, Mucoid diarrhea, Decreased ... OMIM:615767
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent sinusitis, Chronic diarrhea, Colitis, Decreased ci... OMIM:619281
Immunodeficiency 70
Furuncle, Decreased circulating antibody level, Recurrent sinusitis, Achalasia, Colitis, Decrease... OMIM:618969
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Colitis OMIM:615947
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Anorexia, Elevated... ORPHA:49041
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Colitis OMIM:616098
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Acute kidney injury, Increased serum interferon-gamma level, Increased inflammatory re... ORPHA:542323
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Skin rash, Increased circulating ferritin concentration, Increased ser... ORPHA:540
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, A... OMIM:604416
Malaria
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, N... ORPHA:673
Preeclampsia
Acute kidney injury, Abdominal pain, Helicobacter pylori infection, Elevated circulating creatini... ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Hypocalcemia, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Abdominal pain, Elevated circulating c... ORPHA:91547
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Immunodeficiency 58
Dysuria, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis... OMIM:618131
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Eczema, Dec... OMIM:608809
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Nasogastric tube feeding, Decreased prealbumin level, Interstitial pneumonitis, Ecz... ORPHA:37042
Chronic Graft Versus Host Disease
Hematuria, Bronchiectasis, Abnormality of esophagus physiology, Abdominal pain, Urinary bladder i... ORPHA:99921
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... OMIM:616733
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Panhypoga... OMIM:209920
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Visceral Myopathy 2
Megaduodenum, Esophagitis, Hiatus hernia, Megacystis, Dysphagia, Gastroesophageal reflux, Intesti... OMIM:619350
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Abdom... ORPHA:567548
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Recurrent urinary tract infections, Reduced isohemagglutinin level, Decreased c... OMIM:614699
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Arthritis, Myosit... ORPHA:69126
Alpha-Heavy Chain Disease
Hypocalcemia, Abdominal pain, Dysgammaglobulinemia, Abnormality of the small intestine, Malabsorp... ORPHA:100025
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Poor appetite, Palmoplantar pustulosis, Elevated ... ORPHA:324964
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Increased blood urea nitrogen, Nocturia, Elevated circulating creatini... ORPHA:230
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Fever, Hypertriglyceridemia OMIM:619175
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Increased total bilirubin, Gastrointestinal... ORPHA:2137
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar... ORPHA:48104
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Colitis, Anterior uveitis, Recurrent fever OMIM:616744
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Renal amyloidosis, Uveitis, Conjunctivitis, Elevated circulating C-reactive protein co... OMIM:120100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... OMIM:235400
Congenital Primary Megaureter
Abdominal pain, Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infecti... ORPHA:617
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Skin rash, Conjunctivitis, Hypertriglyceridemia, Re... OMIM:603552
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Abdominal pain, Nephrotic range proteinuria, Abnormali... ORPHA:93126
Shigellosis
Peritonitis, Acute kidney injury, Pneumonia, Abnormal blood ion concentration, Anorexia, Myocardi... ORPHA:810
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration, Fever, Hy... OMIM:268200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Increased blood urea nitrogen, Constipation, Glomerular sclerosis, Gas... OMIM:223900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Bronchi... OMIM:614700
Secondary Short Bowel Syndrome
Low plasma citrulline, Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy,... ORPHA:95427
Focal Myositis
Elevated circulating creatine kinase concentration, Myositis, Fever ORPHA:48918
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting... OMIM:201475
Drug-Induced Lupus Erythematosus
Hematuria, Pericarditis, Increased blood urea nitrogen, Malar rash, Elevated circulating C-reacti... ORPHA:231111
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Mu-Heavy Chain Disease
Increased circulating antibody level, Fever, Bence Jones Proteinuria, Nephropathy ORPHA:100024
Aapoaiv Amyloidosis
Renal amyloidosis, Abnormality of the gastrointestinal tract, Elevated circulating creatinine con... ORPHA:439232
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Protracted diarrhea, Diarrhea, Hypoalbu... ORPHA:67
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Colitis, Increased circulating interleukin 8, Urethral strictur... OMIM:301220
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularity, Colitis OMIM:615190
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Fever, Diarrhea OMIM:618963
Cirrhosis, Familial
Increased level of L-fucose in urine, Esophageal varix, Increased level of propylene glycol in bl... OMIM:215600
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Reduced sperm motility, Elevated circula... ORPHA:730
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Multiple Myeloma
Acute kidney injury, Increased circulating IgA level, Elevated circulating creatinine concentrati... ORPHA:29073
Immunodeficiency 27A
Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum... OMIM:209950
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Intestinal perforation, Acute kidney injury, Abdominal pain, Anuria, ... ORPHA:90038
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Acute kidney injury, Pneumonia, Diarrhea, Myocarditis, Vomiting, Decreased urine ou... ORPHA:544482
Sepsis In Premature Infants
Gastrointestinal dysmotility, Temperature instability, Reversible renal failure, Increased circul... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Proxi... OMIM:614576
Igg4-Related Aortitis
Increased circulating IgE level, Abdominal pain, Increased inflammatory response, Increased circu... ORPHA:449400
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Decreased serum iron, Hepatitis, Diarrhea OMIM:614602
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Panniculitis, Abn... ORPHA:3243
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pustule, Acute kidney injury, Superficial dermal perivascular inflammatory infiltrate, Elevated c... ORPHA:284426
Malignant Hyperthermia, Susceptibility To, 1
Malignant hyperthermia, Myoglobinuria, Elevated circulating creatine kinase concentration, Fever,... OMIM:145600
Reticular Dysgenesis
Skin rash, Decreased circulating antibody level, Chronic otitis media, Diarrhea, Malabsorption, F... ORPHA:33355
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Increased circulating ferritin concentration, Increased prop... ORPHA:2442
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Impaired oxidative burst, Ulcerative colitis, Acute pancreatitis, Nephrotic syndro... OMIM:618935
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Fever, Elevated circulating C-reactive protein con... ORPHA:79126
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Increased circulating antibody level, Fever OMIM:618048
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Esophagitis, Allergic rhinitis, Atopic derm... ORPHA:411696
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Increased circulating antibody level, Pneumonia, Anorexia... ORPHA:169160
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Nausea, Neoplasm of the liver, Vomiting, Increased hepatitis B virus antibody lev... ORPHA:90003
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Malabsorption, Conjunctivitis, Hepatitis, Diarrh... ORPHA:33110
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Congenital Disorder Of Glycosylation, Type Iit
Feeding difficulties, Hypotriglyceridemia, Constipation, Urinary incontinence, Decreased serum cr... OMIM:618885
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Fever, Reduced natural killer cell activity OMIM:608898
Malignant Hyperthermia, Susceptibility To, 2
Malignant hyperthermia, Elevated circulating creatine kinase concentration, Fever, Hyperkalemia, ... OMIM:154275
Acute Lung Injury
Abnormality of serum cytokine level, Pneumonia, Abnormality of tumor necrosis factor secretion, A... ORPHA:178320
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Fever, Hematuria, Proteinuria ORPHA:90060
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Diarrhea, Vomiting, Fever, Hyperphosphatemia OMIM:239350
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Elevated circulating creatinine concentration, Anorexia, Increased circulating IgG lev... ORPHA:91500
Central Diabetes Insipidus
Nocturia, Hyponatremia, Anorexia, Diarrhea, Nausea and vomiting, Fever ORPHA:178029
Rosaï-Dorfman Disease
Fever, Dysgammaglobulinemia ORPHA:158014
Immunodeficiency 76
Colitis, Chronic diarrhea, Recurrent pneumonia OMIM:619164
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Reduced sperm motility, Exocrine pancreatic insufficiency, Decreased n... OMIM:137920
Autoimmune Lymphoproliferative Syndrome
Abnormal serum interleukin level, Decreased specific anti-polysaccharide antibody level, Thyroidi... ORPHA:3261
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Abnormality of serum cyto... ORPHA:94059
Cyclic Neutropenia
Peritonitis, Abdominal pain, Periodontitis, Perianal abscess, Recurrent fever, Sinusitis, Recurre... ORPHA:2686
Malignant Hyperthermia, Susceptibility To, 3
Malignant hyperthermia, Elevated circulating creatine kinase concentration, Fever, Hyperkalemia, ... OMIM:154276
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Cocaine Intoxication
Intestinal perforation, Hematuria, Acute kidney injury, Abdominal pain, Bloody diarrhea, Gastroin... ORPHA:90068
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Abdominal pain, Juvenile rheumatoid arthritis, Elevated circulating C-re... ORPHA:85414
X-Linked Agammaglobulinemia
Skin rash, Hypocalcemia, Chronic otitis media, Chronic diarrhea, Sinusitis, Conjunctivitis, Hepat... ORPHA:47
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Renal sodium wasting, Vomiting, Fever, Hyperkalemia ORPHA:556037
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Abdominal pain, Nausea, Maculopapular exanthema, Incr... ORPHA:83313
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Linear Iga Dermatosis
Inflammation of the large intestine, Renal neoplasm ORPHA:46488
Polyarteritis Nodosa
Pericarditis, Abdominal pain, Abnormality of the gastrointestinal tract, Elevated circulating C-r... ORPHA:767
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Elevated creatine kinase after exercise, Myoglobinuria, Fever, Hyperkalemia ORPHA:57
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ... ORPHA:911
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Thyroiditis, Hyperuricemia, Diarrhea, Hyperlipidemia, Enlarged kidney, Neph... ORPHA:79259
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Gastrointestinal hemorrhage, Elevated circulating creatinine concentration, Glomerular... ORPHA:247691
Enterocolitis
Hematochezia, Ulcerative colitis, Abdominal distention, Enterocolitis OMIM:226150
Meningococcal Meningitis
Skin rash, Projectile vomiting, Anorexia, Encephalitis, Elevated circulating C-reactive protein c... ORPHA:33475
Adult-Onset Still Disease
Skin rash, Pericarditis, Abdominal pain, Abnormal circulating lipid concentration, Hepatitis, Ele... ORPHA:829
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Renovascular hypertension, Thyroiditis, Villous atrophy, Esophageal carcinoma, Fu... ORPHA:391487
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Perianal abscess, Rectovaginal fistula, Enterocolitis OMIM:612567
Psoriasis 14, Pustular
Pustule, Geographic tongue, Furrowed tongue, Cholangitis, Elevated circulating C-reactive protein... OMIM:614204
Caffey Disease
Increased circulating antibody level, Feeding difficulties in infancy, Fever ORPHA:1310
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Myocarditis, Renal ins... ORPHA:73263
Glucose-Galactose Malabsorption
Malnutrition, Hematuria, Hypernatremia, Hyperactive bowel sounds, Abdominal distention, Diarrhea,... ORPHA:35710
Pfapa Syndrome
Abdominal pain, Encephalitis, Nausea and vomiting, Abnormality of temperature regulation, Malabso... ORPHA:42642
Nephrogenic Diabetes Insipidus
Hyposthenuria, Feeding difficulties, Hydroureter, Hypernatremia, Constipation, Anorexia, Function... ORPHA:223
Dubin-Johnson Syndrome
Abnormal urinary color, Abdominal pain, Conjugated hyperbilirubinemia, Abnormality of the gastric... ORPHA:234
Tetanus
Abdominal pain, Elevated urinary norepinephrine, Dysphagia, Elevated urinary epinephrine, Bowel i... ORPHA:3299
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Abdominal pain, Thyroiditis, Hepatocellular carcinoma, Ulcerative co... ORPHA:171
Autosomal Dominant Centronuclear Myopathy
Malignant hyperthermia, Mildly elevated creatine kinase, Urinary incontinence, Spontaneous aborti... ORPHA:169189
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Porphyria
Abnormal urinary color, Abdominal pain, Constipation, Anorexia, Diarrhea, Abnormal circulating po... ORPHA:738
Avian Influenza
Myelitis, Acute kidney injury, Abdominal pain, Pneumonia, Elevated circulating creatine kinase co... ORPHA:454836
Dengue Fever
Skin rash, Hypoproteinemia, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Nausea and vom... ORPHA:99828
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis, Renal insufficiency OMIM:203300
Syndromic Diarrhea
Abnormality of iron homeostasis, Renal hypoplasia, Villous atrophy, Panhypogammaglobulinemia, Col... ORPHA:84064
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis, Fever OMIM:618398
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Osteomyelitis ORPHA:232
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent aphthous stomatitis, Increased circulating IgM level, Fever ORPHA:2688
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormality of temperature regulation, Hepatitis, Abnormality of i... ORPHA:848
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Nephrotic syndrome, C... OMIM:618999
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Yellow Fever
Gastrointestinal hemorrhage, Abdominal pain, Malignant hyperthermia, Acute hepatic failure, Nephr... ORPHA:99829
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Hydronephrosis,... OMIM:618161
Solitary Fibrous Tumor/Hemangiopericytoma
Constipation, Hypophosphatemic rickets, Reduced C-peptide level, Neoplasm of the liver, Urinary r... ORPHA:2126
Polyembryoma
Abdominal pain, Irregular menstruation, Elevated alpha-fetoprotein, Fever, Abdominal distention ORPHA:180229
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Elevated circulating C-reactive protein concentration, Fever, Abnormali... ORPHA:54251
Legionnaires Disease
Endocarditis, Hematuria, Pericarditis, Abdominal pain, Hyponatremia, Anorexia, Hepatitis, Diarrhe... ORPHA:549
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul... ORPHA:562639
Cystinosis
Hypophosphatemia, Aminoaciduria, Nephropathy, Hypokalemia, Vomiting, Renal insufficiency, Renal t... ORPHA:213
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:301000
Congenital Enterovirus Infection
Skin rash, Hepatitis, Encephalitis, Hepatic failure, Myocarditis, Hypoalbuminemia, Hyperammonemia... ORPHA:292
Rheumatoid Arthritis
Rheumatoid arthritis, Fever, Elevated circulating C-reactive protein concentration OMIM:180300
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Gastrointestinal hemorrhage, Abdominal pain, C... ORPHA:340
Antisynthetase Syndrome
Skin rash, Dysphagia, Xerostomia, Keratoconjunctivitis sicca, Myocarditis, Elevated circulating c... ORPHA:81
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Conjunctivitis, En... ORPHA:448237
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Skin rash, Fever, Abnormal urinary color ORPHA:90036
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Anoperineal fistula, Eosinophili... OMIM:618213
Acute Intermittent Porphyria
Dysuria, Pseudobulbar paralysis, Abdominal pain, Constipation, Dark urine, Elevated urinary delta... ORPHA:79276
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hyperbilirubinemia, Acute hepatic failure, Hyponatremia, Chron... ORPHA:1667
Cholera
Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Abdominal cramps, Abdominal pa... ORPHA:173
Microscopic Polyangiitis
Peritonitis, Skin rash, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Increased inflammat... ORPHA:727
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Periodontitis, Cheilitis, Colitis, E... ORPHA:2908
Malignant Hyperthermia Of Anesthesia
Acute kidney injury, Malignant hyperthermia, Acute hepatic failure, Elevated creatine kinase afte... ORPHA:423
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Skin rash, Increased total bilirubin, Hypoproteinem... OMIM:603553
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypomagnesemia, Nasogastric tube feeding, Acute kidney injury, Dysphagia, Hypernatr... ORPHA:94093
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Iridocyclitis, Bronchiecta... OMIM:181000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Lymphadenitis, Decreased circulating antibody level, Protracted diarrhea, Decreased ci... ORPHA:331206
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Cockayne Syndrome Type 1
Male hypogonadism, Increased blood urea nitrogen, Abnormality of temperature regulation, Uveitis,... ORPHA:90321
Refractory Anemia With Excess Blasts
Fever, Bone marrow hypocellularity, Abnormal circulating albumin concentration, Abnormal circulat... ORPHA:86839
Digital Extensor Muscle Aplasia-Polyneuropathy
Heat intolerance, Abnormality of temperature regulation ORPHA:2926
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hyposthenuria, Renal potassium wasting, Constipation, Polyuria, Renal juxtaglomer... OMIM:601678
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Abdominal pain, Recurrent urinary tra... ORPHA:29207
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Abdominal pain, Erythroderma, Dysphagia, Chronic diarrhea, ... ORPHA:3260
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Acute hepatic failure, N... ORPHA:139402
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Neurogenic bladder, Abnormality of temperature regulation, Gastrostomy tube feeding in infancy OMIM:619173
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Anorexia, Increased circulating IgG level, Elevated ... ORPHA:1304
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Abnormality of the menstrual cycle, Abnormal platelet functi... ORPHA:906
Granulomatosis With Polyangiitis
Skin rash, Hematuria, Pericarditis, Elevated circulating C-reactive protein concentration, Sinusi... ORPHA:900
Chronic Bilirubin Encephalopathy
Feeding difficulties, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Fever ORPHA:529808
Acute Bilirubin Encephalopathy
Feeding difficulties, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Fever ORPHA:529799
Chronic Mucocutaneous Candidiasis
Skin rash, Hematuria, Recurrent urinary tract infections, Cheilitis, Dyspareunia, Hepatitis, Abno... ORPHA:1334
Familial Mediterranean Fever
Peritonitis, Skin rash, Pericarditis, Erysipelas, Diarrhea, Osteoarthritis, Gastrointestinal infa... ORPHA:342
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Renal artery aneurysm, Feeding difficulties, Abdominal pain, Decreased circulating ant... OMIM:615688
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation, Hypomagnesemia, Hyposthenuria, Renal potassium wasting, Constipati... OMIM:241200
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Menorrhagia, Recurrent spontaneous abortion, Hepatic failure ORPHA:331
Juvenile Dermatomyositis
Skin rash, Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Constipation, Ca... ORPHA:93672
Microsporidiosis
Peritonitis, Thyroiditis, Pneumonia, Anorexia, Sinusitis, Myocarditis, Myositis, Vomiting, Osteom... ORPHA:2552
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Polyuria, Heat intolerance, Xerostomia, Hypokalemia, Renal insuff... OMIM:617671
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Fever, Diarrhea OMIM:619313
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Glossitis, Hematemesis... ORPHA:707
Mirizzi Syndrome
Abdominal pain, Abdominal colic, Dark urine, Nausea, Hyperbilirubinemia, Anorexia, Pancreatitis, ... ORPHA:521219
Spinocerebellar Ataxia Type 3
Abnormality of temperature regulation ORPHA:98757
Machado-Joseph Disease Type 1
Neurogenic bladder, Dysphagia, Abnormality of temperature regulation ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Dysphagia, Abnormality of temperature regulation ORPHA:276241
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Psoriasiform dermatitis, Oligoarthritis,... OMIM:106300
Budd-Chiari Syndrome
Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Acute hep... ORPHA:131
Ulnar-Mammary Syndrome
Renal hypoplasia, Ectopic anus, Anal atresia, Hypoplasia of penis, Abnormality of temperature reg... ORPHA:3138
Ectodermal Dysplasia And Immunodeficiency 2
Heat intolerance, Defective production of NFKB1-dependent cytokines, Recurrent infection of the g... OMIM:612132
Machado-Joseph Disease Type 3
Neurogenic bladder, Dysphagia, Abnormality of temperature regulation ORPHA:276244
Caroli Disease
Abdominal pain, Nausea, Conjugated hyperbilirubinemia, Esophageal varix, Anorexia, Cholangitis, P... ORPHA:53035
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Hemoglobinuria, Fever, Abdominal pain OMIM:300908
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Constipation, Recurrent pneumonia, Abnormality of temperature regulation, Hypothermia, Fever OMIM:618493
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Colitis, Keratoconjunctivitis sic... ORPHA:309031
Immunoglobulin A Vasculitis
Skin rash, Pustule, Hematuria, Gastrointestinal hemorrhage, Proteinuria, Gastrointestinal infarct... ORPHA:761
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Elevated circulating C-reactive protein conce... ORPHA:70591
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Caroli Syndrome
Hematemesis, Abdominal pain, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Esophageal varix,... ORPHA:480520
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Premature ovarian insufficien... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Premature ovarian insufficien... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Premature ovarian insufficien... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Premature ovarian insufficien... ORPHA:881
Frontometaphyseal Dysplasia 2
Neurogenic bladder, Gastroesophageal reflux, Ulcerative colitis, Cleft palate, Bifid uvula, High ... OMIM:617137
Leptospirosis
Skin rash, Acute kidney injury, Pericarditis, Abdominal pain, Cellular urinary casts, Uveitis, Op... ORPHA:509
Mowat-Wilson Syndrome
Chordee, Vesicoureteral reflux, Pelvic kidney, Vomiting, Dependency on intravenous nutrition, Mic... ORPHA:2152
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Acute kidney injury, Malignant hyperthermia, Nausea, Elevated circulating creatine ... ORPHA:466650
Deeah Syndrome
Narrow palate, Exocrine pancreatic insufficiency, Abnormality of temperature regulation, Dysphagi... OMIM:619004
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine OMIM:617718
Goodpasture Syndrome
Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Glomerulonephritis, Macrosco... OMIM:233450
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Scleritis, Abnormality of temperature regulation, Feeding difficulties, Hydroureter, Uveitis, Aga... ORPHA:2273
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation, Constipation, Aganglionic megacolon, Feeding difficulties OMIM:209880
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Chronic rhinitis, Abnormality of temperature regulation, 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)