banner
Genes Phenotypes Help, News, Blog

Gene: Mmp17 MGI:1346076

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
matrix metallopeptidase 17
Synonyms:
MT4-MMP,  membrane type-4 matrix metalloproteinase

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Mmp17 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 Mmp17 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Nephronophthisis-Like Nephropathy 2
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... OMIM:619468
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria OMIM:222100
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... OMIM:266900
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:613550
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria ORPHA:95626
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... OMIM:612925
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, R... ORPHA:99845
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... OMIM:618314
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:616963
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome OMIM:612926
Coach Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... OMIM:619113
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Renal insufficiency, Dysphagia ORPHA:220393
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Lassa Fever
Oliguria, Dysphagia ORPHA:99824
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Renal insufficiency, Oliguria ORPHA:188
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... OMIM:615862
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Renal Tubular Dysgenesis
Abnormality of the urinary system, Renotubular dysgenesis, Anuria OMIM:267430
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Central Diabetes Insipidus
Anorexia, Polydipsia, Nocturia ORPHA:178029
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... OMIM:603278
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Nephronophthisis 15
Nephronophthisis OMIM:614845
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria OMIM:143880
Microscopic Polyangiitis
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency ORPHA:727
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Polyuria OMIM:613677
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Dicarboxylic aciduria ORPHA:159
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Renal insuffic... ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Megacystis OMIM:304800
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Lujo Hemorrhagic Fever
Microscopic hematuria, Oliguria, Renal insufficiency, Dysphagia ORPHA:319213
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Reduced renal cort... ORPHA:731
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal... OMIM:602522
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium was... ORPHA:199343
Aneurysm Of Sinus Of Valsalva
Oliguria ORPHA:1054
Apparent Mineralocorticoid Excess
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Polydipsia ORPHA:320
Helix Syndrome
Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria OMIM:617671
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Renal insufficiency OMIM:615986
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Cystinosis
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur... ORPHA:213
Sepsis In Premature Infants
Oliguria, Reversible renal failure ORPHA:90051
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Bardet-Biedl Syndrome 17
Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Jeune Syndrome
Nephropathy, Nephronophthisis, Renal insufficiency ORPHA:474
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Salt craving, Polyuria, Renal salt was... OMIM:612780
Colchicine Poisoning
Oliguria, Renal insufficiency ORPHA:31824
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... ORPHA:567548
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Nephrolithiasis OMIM:617994
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... ORPHA:18
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Decreased urine output, Nephrotic range proteinuria ORPHA:544482
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... OMIM:174000
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:616629
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Hemolytic-uremic syndrome OMIM:235400
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611560
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Hyperphosphaturia, Hypercalciuria, Polyuria OMIM:239200
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... ORPHA:47159
Joubert Syndrome 6
Stage 5 chronic kidney disease, Motor stereotypy, Nephronophthisis OMIM:610688
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne... OMIM:248250
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Cardiogenic Shock
Oliguria ORPHA:97292
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... ORPHA:439232
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Polyuria OMIM:620152
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia ORPHA:251274
Arima Syndrome
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... ORPHA:411634
Ethylene Glycol Poisoning
Renal insufficiency, Renal tubular dysfunction, Hematuria, Addictive alcohol use, Decreased urine... ORPHA:31826
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia OMIM:616733
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis OMIM:619351
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Decreased urine output ORPHA:542323
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... ORPHA:93111
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Salt craving, Polyuria, Nocturia, R... OMIM:263800
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypercalciuria, Polyuria OMIM:300971
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium ORPHA:231580
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal... ORPHA:411629
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Joubert Syndrome 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... OMIM:613090
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Renal insufficiency OMIM:602152
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Cholera
Abnormality of renal excretion, Acute kidney injury, Decreased urine output ORPHA:173
Joubert Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... OMIM:610188
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting OMIM:613845
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Nephronophthisis OMIM:615630
Familial Cold Urticaria
Polydipsia ORPHA:47045
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria ORPHA:466650
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Nephrolithiasis ORPHA:369929
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... OMIM:216360
Brain-Lung-Thyroid Syndrome
Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking behavior, Hyperact... ORPHA:209905
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Acute kidney injury, Anuria ORPHA:90038
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... ORPHA:99880
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu... OMIM:263200
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Polydipsi... OMIM:241200
Parathyroid Carcinoma
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... ORPHA:143
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal medullary pyramid morphology ORPHA:79243
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuri... OMIM:219800
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperactivity, Hyperechogenic kidneys OMIM:620047
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia ORPHA:3157
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Erdheim-Chester Disease
Hydronephrosis, Polydipsia, Dysuria, Renal insufficiency ORPHA:35687
Wolfram Syndrome
Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, D... ORPHA:3463
Toxic Epidermal Necrolysis
Polydipsia, Abnormality of the urethra, Renal insufficiency, Dysphagia, Dysuria ORPHA:537
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... OMIM:219730
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Panhypophysitis
Polydipsia, Hyposthenuria ORPHA:95513
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation OMIM:618541
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Hyperactivity ORPHA:525731
Joubert Syndrome 2
Renal cyst, Nephronophthisis, Renal insufficiency OMIM:608091
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation OMIM:617397
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Polydipsia, Renal tubular acidosis, Proteinuria, Sa... ORPHA:358
Yellow Fever
Acute kidney injury, Renal insufficiency, Anuria ORPHA:99829
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Polydipsia ORPHA:769
Cranioectodermal Dysplasia 3
Stage 5 chronic kidney disease, Nephronophthisis OMIM:614099
Whipple Disease
Polydipsia, Anorexia ORPHA:3452
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph... OMIM:211900
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Cornelia De Lange Syndrome 1
Self-injurious behavior, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesico... OMIM:122470
Mayer-Rokitansky-Kuster-Hauser Syndrome
Renal cyst, Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Renal m... OMIM:277000
Tuberous Sclerosis 2
Renal angiomyolipoma, Attention deficit hyperactivity disorder, Renal cyst, Renal cell carcinoma,... OMIM:613254
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul... OMIM:266920
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Polyphagia, Aggressive behavior, Compulsive behaviors, Enuresis ORPHA:293987
Diarrhea 10, Protein-Losing Enteropathy Type
Renal dysplasia, Polyuria OMIM:618183
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... OMIM:118450
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia ORPHA:289176
Zttk Syndrome
Horseshoe kidney, Unilateral renal agenesis, Polyuria OMIM:617140
Lipodystrophy, Familial Partial, Type 7
Dysphagia, Polyuria OMIM:606721

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 Mmp17

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 Mmp17.

No publications found that use IMPC mice or data for Mmp17.

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
Mmp17tm172129(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter