Not currently registered for phenotyping at IMPC

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

Gene Summary

peroxisomal membrane protein 2
PMP22,  22kDa

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Pxmp2 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 Pxmp2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria, Renal insufficiency, Hyp... ORPHA:411536
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia OMIM:609886
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu... ORPHA:79233
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Hereditary Xanthinuria
Aldehyde oxidase deficiency, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased... ORPHA:3467
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the ovary, Increased circulating lactate dehydrogenase c... ORPHA:543
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Uni... OMIM:137920
Glycogen Storage Disease Vii
Increased total bilirubin, Exercise-induced myoglobinuria, Cholelithiasis, Hyperuricemia, Jaundice OMIM:232800
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricosuria, Hyperuricemia, Acute kid... ORPHA:411543
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Cholestatic liver disease, Nephro... OMIM:602114
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Glutaric aciduria, Hyperammonemia, Increased level of hippuric acid in urine, Hyper... OMIM:246450
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hirsutism, Oligomenorrhea, Polycystic ovaries, Hyperuric... OMIM:604367
Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia, Hyperuricosuria, Uric acid... OMIM:300661
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Glomerulopathy, Renal agenesis, Renal Fanconi syndrome, Abnormalit... ORPHA:93111
Hyperuricemia, Hprt-Related
Renal insufficiency, Nephrolithiasis, Hyperuricemia, Hyperuricosuria OMIM:300323
Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia ORPHA:214
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Low anterior hairline, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disea... ORPHA:261222
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia, Nephropathy, Chronic kidney disease OMIM:617056
Hypomagnesemia 3, Renal
Nephrocalcinosis, Renal tubular acidosis, Hematuria, Renal calcium wasting, Nephrolithiasis, Hypo... OMIM:248250
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinuria, Hyperechogenic ... OMIM:613845
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Oligomenorrhea, Polycystic ovaries, Pancreatiti... ORPHA:79083
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hyperuricemia ORPHA:3222
Hereditary Fructose Intolerance
Hepatomegaly, Episodic hyperhidrosis, Reduced aldolase level, Hypophosphatemia, Hyperuricemia, Re... ORPHA:469
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperlipidemia, Decre... OMIM:232200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Prote... OMIM:616026
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperlipidemia, Decre... OMIM:232220
Fructose Intolerance, Hereditary
Hepatomegaly, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia,... OMIM:229600
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Inc... ORPHA:348
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hydroxyprolinuria, Hyperuricemia, Elevated circulating alkaline phosphatase co... OMIM:239000
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Menorrhagia, Hyperlipidemia, Hyperuricemia ORPHA:35909
Molybdenum Cofactor Deficiency, Complementation Group A
Aldehyde oxidase deficiency, Xanthinuria, Increased urinary thiosulfate, Absent urinary urothione... OMIM:252150
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hirsutism, Hypothyroidism, Hyperuricemia ORPHA:77296
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Microscopic hematuria, Chronic ki... ORPHA:411634
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... ORPHA:94093
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hyperuricemia OMIM:102730
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Menorrhagia, Nep... ORPHA:79259
Glycogen Storage Disease Ic
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hyperlipidemia, Decre... OMIM:232240
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Lesch-Nyhan Syndrome
Testicular atrophy, Nephrolithiasis, Hyperuricemia, Hyperuricosuria OMIM:300322
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Hepatitis, Hyperuricemia, Pituitary adenoma, Pre... ORPHA:199299
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Secondary amenorrhea, Hepatic fibrosis, Elevated transferrin ... OMIM:613313
Acute Adrenal Insufficiency
Hyperkalemia, Hyponatremia, Hypercalcemia, Decreased circulating aldosterone level, Increased cir... ORPHA:95409
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Hyperammonemia, Jaundice, Hyperuricemia, Acute p... ORPHA:20
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Spontaneous abortion, Increased urinary taurine, Sulfite oxidase deficiency, Molybd... OMIM:615501
Juvenile Paget Disease
Hyperuricemia ORPHA:2801
Chronic kidney disease, Elevated circulating creatinine concentration, Polycystic ovaries, Acute ... ORPHA:275555
Addison Disease
Hyperkalemia, Hyponatremia, Hypoparathyroidism, Hypercalcemia, Decreased circulating aldosterone ... ORPHA:85138
Azotemia, Familial
Azotemia OMIM:109160
Beta-Ketothiolase Deficiency
Hyperammonemia, Hepatomegaly, Hyperuricemia, Ketonuria ORPHA:134
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic... ORPHA:79230
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... OMIM:603471
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia, Elevated hepatic transam... OMIM:614480
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficiency, Jaun... ORPHA:890
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Xanthine nephrolithiasis, Pyelonephritis, Reduced xanthine dehy... OMIM:278300
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbili... OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Elevated hepatic transaminase, Increased serum bi... OMIM:147480
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... OMIM:617156
Hemochromatosis, Type 3
Increased serum iron, Amenorrhea, Hypogonadotropic hypogonadism, Elevated transferrin saturation,... OMIM:604250
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hirsutism, Hyperuricemia OMIM:142625
Hepatomegaly, Secondary amenorrhea, Hypergalactosemia, Oligomenorrhea, Cirrhosis, Decreased ferti... ORPHA:352
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperalaninemia, Decreased liver function, Hyperammonemia, Elevated circulating sebacic acid conc... OMIM:615160
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased urinary taurine... OMIM:252160
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, E... OMIM:301045
Gaisböck Syndrome
Hyperproteinemia, Nephrocalcinosis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Ch... ORPHA:90041
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Decreased circulating T4 level, Elevated circulating thyroid-sti... ORPHA:94086
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Cholelithiasis OMIM:300752
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Cockayne Syndrome
Fine hair, Hepatomegaly, Renal hypoplasia, Dry hair, Nephrotic syndrome, Abnormal renal physiolog... ORPHA:191
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hyperbilirubinemia, Hepatic fa... OMIM:214950
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated hepatic transaminase, Acute hepatic failure, Hyperammonemia OMIM:615453
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... ORPHA:247598
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myoglobinuria, Decreased plasma free carnitine, Reduced carnitine O-palmitoyltransf... ORPHA:228305
Porphyria Cutanea Tarda
Increased serum iron, Hirsutism, Hypertrichosis, Elevated hepatic iron concentration, Hepatocellu... ORPHA:101330
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Hyperglutaminemia, Elevated circulating creatine kinase concentration, Dic... OMIM:619355
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Elevat... ORPHA:99845
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular carc... ORPHA:370
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Conjugated hyperbilirubinemia... OMIM:619484
Becker Muscular Dystrophy
Elevated hepatic transaminase, Myoglobinuria, Abnormal urinary color, Elevated circulating creati... ORPHA:98895
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Hepati... OMIM:235555
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased urinary urate ORPHA:760
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Cirrhosis, Elevated circulating alkaline phosphatase con... OMIM:613812
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Hypouricemia, Increased circulating inosine concentration, In... OMIM:613179
Myh9-Related Disease
Menorrhagia, Nephritis, Nephropathy, Elevated hepatic transaminase, Proteinuria, Renal insufficiency ORPHA:182050
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Macrovesicular ... OMIM:600649
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Glycosuria, Ketonuria ORPHA:2089
Familial Osteodysplasia, Anderson Type
Thick eyebrow, Hyperuricemia ORPHA:2769
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Cirr... OMIM:607765
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Elevated circulating alkaline ph... ORPHA:84081
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Oligomenorrhea, Ele... ORPHA:264580
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Abnormal erythrocyte enzyme level ORPHA:1187
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oligomenor... ORPHA:79240
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H... ORPHA:93600
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hyperammonemia, Jaundice OMIM:616483
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuria, Elevated he... OMIM:201450
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrhosis, Portal hy... OMIM:617394
Wolcott-Rallison Syndrome
Hepatomegaly, Hyponatremia, Central hypothyroidism, Chronic kidney disease, Hyperbilirubinemia, H... ORPHA:1667
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Cirrhosis, Elevated hepatic transaminase,... OMIM:602347
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Adrenal insufficiency, Elevated hepatic i... ORPHA:300298
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hep... OMIM:618641
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatocellular carcinoma, Nephroc... OMIM:276700
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Hyperbilirubinemia, Dark urine, Cholesterol gallstones, ... ORPHA:521219
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res... ORPHA:470
Eisenmenger Syndrome
Hepatomegaly, Abnormal B-type natriuretic peptide level, Hyperuricemia, Abnormality of the liver,... ORPHA:97214
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Elevated hepatic tran... ORPHA:261265
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Hyperb... ORPHA:562639


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 Pxmp2

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 Pxmp2.

No publications found that use IMPC mice or data for Pxmp2.

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MGI Allele Allele Type Produced
Pxmp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Pxmp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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