Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
proline dehydrogenase (oxidase) 2
Synonyms:
MmPOX1,  POX1,  2510028N04Rik,  2510038B11Rik

IMPC Data Collections

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

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.

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 Prodh2 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 Prodh2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Prolinuria, Hydroxyprolinuria, Hyperglycinuria ORPHA:42062
Dibasic Amino Aciduria I
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria OMIM:222690
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239510
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Saccharopinuria
Elevated circulating sacchoropine concentration, Saccharopinuria, Hyperlysinuria, Citrullinuria, ... OMIM:268700
Cystinuria
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... OMIM:220100
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Cystathioninuria
Cystathioninuria OMIM:219500
Threoninemia
Hyperthreoninuria, Hyperthreoninemia OMIM:273770
Phenylketonuria
Aminoaciduria ORPHA:716
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Carnosinemia
Carnosinuria OMIM:212200
Hydroxylysinuria
Hyperlysinuria OMIM:236900
Tiglic Acidemia
Aminoaciduria OMIM:275190
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Carnosinase Deficiency
Carnosinuria ORPHA:1361
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... ORPHA:2843
Dicarboxylic Aminoaciduria
Aminoaciduria, Nephrolithiasis, Aspartic aciduria OMIM:222730
Hyperglycinuria
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Camptodactyly 1
Increased urinary taurine OMIM:114200
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Diaminopentanuria
Cystinuria, Hyperlysinuria OMIM:222350
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Hyper-Beta-Alaninemia
Hyperbeta-alaninemia, Increased urinary taurine OMIM:237400
Gracile Syndrome
Aminoaciduria, Increased circulating ferritin concentration, Increased serum iron, Increased seru... OMIM:603358
Glucoglycinuria
Glycosuria, Hyperglycinuria OMIM:138070
Homocarnosinosis
Carnosinuria OMIM:236130
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hyperprolinemia, Hydroxyprolinuria OMIM:239500
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Hypoargininemia, Episodic ammonia intoxication ORPHA:147
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Positive ferric chloride test OMIM:229100
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Hematuria, Dysuria, Abnormality of urine homeostasis, Abnormal renal physiology... ORPHA:93600
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine, Prolinuria OMIM:260005
Valinemia
Valinuria, Hypervalinemia OMIM:277100
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria, Hyperhomocystinemia OMIM:236250
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria OMIM:612718
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria OMIM:238750
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria OMIM:204730
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria ORPHA:2278
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Galactosuria OMIM:230350
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria OMIM:249650
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Carnosinuria OMIM:309930
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Nephrolithiasis, Calcium Oxalate
Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney ... OMIM:167030
Hyperoxaluria, Primary, Type Iii
Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:613616
Cystathioninuria
Cystathioninuria, Cystathioninemia, Nephrolithiasis ORPHA:212
Dimethylglycine Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating N,N-dimethylglycine conc... OMIM:605850
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Stimmler Syndrome
Aminoaciduria ORPHA:3199
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction OMIM:236800
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, R... OMIM:134600
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Renal insufficiency,... OMIM:613388
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Proteinuria OMIM:615605
Tyrosinemia Type 1
Generalized aminoaciduria ORPHA:882
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria ORPHA:417
Methionine Malabsorption Syndrome
Aminoaciduria, Positive ferric chloride test OMIM:250900
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Hyperuricosuria, Hypercalciuria, Bicarbonatur... ORPHA:3337
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Alaninuria OMIM:202900
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria OMIM:235830
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Galactose Epimerase Deficiency
Aminoaciduria ORPHA:79238
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria ORPHA:2158
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria OMIM:612075
Fanconi Renotubular Syndrome 5
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... OMIM:618913
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Abnormality of circulating enzyme level, Dysuria, D... ORPHA:93598
Galactosemia I
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in plasma, Increased level of gal... OMIM:230400
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria ORPHA:33574
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperamylasemia, Elevated circulating creatine kinase concentration, Aminoaciduri... OMIM:619386
Rowley-Rosenberg Syndrome
Aminoaciduria OMIM:268500
Argininosuccinic Aciduria
Oroticaciduria, Hypoargininemia, Aminoaciduria, Hyperglutaminemia, Hyperammonemia ORPHA:23
Hypertryptophanemia
Hypertryptophanemia, Tryptophanuria OMIM:600627
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine OMIM:266130
Glycine Encephalopathy
Hyperglycinemia, Hyperglycinuria OMIM:605899
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Dent Disease 1
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... OMIM:300009
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria ORPHA:833
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoph... OMIM:616026
Familial Expansile Osteolysis
Hydroxyprolinuria OMIM:174810
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Proteinuria, Hypercalc... ORPHA:1652
Sarcosinemia
Hypersarcosinuria, Hypersarcosinemia ORPHA:3129
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Elevated circulating creatine kinase concentration, Aminoaciduria OMIM:609560
Hypotonia-Cystinuria Syndrome
Cystinuria, Nephrolithiasis ORPHA:163690
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Elevated circulating creatinine concentration, H... ORPHA:411634
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria OMIM:614946
Sulfite Oxidase Deficiency, Isolated
Increased urinary sulfite, Elevated circulating creatine kinase concentration, Sulfocysteinuria, ... OMIM:272300
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:227810
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Methylmalonic aciduria, Methylmalonic acidemia OMIM:309541
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Hypomethioninemia, Hyperhomocystinemia OMIM:250940
Tyrosinemia, Type Iii
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:276710
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria, Nephrolithiasis ORPHA:163693
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Homocystinuria, Hypomethioninemia, Hyperhomocystinemia OMIM:236270
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Fructose Intolerance, Hereditary
Glycosuria, Hyperuricosuria, Bicarbonaturia, Proximal tubulopathy, Hyperphosphaturia, Hyperuricem... OMIM:229600
Tryptophanuria With Dwarfism
Tryptophanuria OMIM:276100
Hsd10 Disease
Abnormal urinary acylglycine profile, Elevated urinary 3-hydroxybutyric acid ORPHA:391417
Dermotrichic Syndrome
Aminoaciduria ORPHA:99688
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Increased level of gamma-aminobutyric... OMIM:271980
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria ORPHA:30
Primary Hyperoxaluria
Aciduria, Nephrocalcinosis, Hematuria, Hypercalciuria, Chronic kidney disease, Elevated urine gly... ORPHA:416
Hawkinsinuria
4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Hypertyrosinemia OMIM:140350
D-Glyceric Aciduria
Aminoaciduria, Nonketotic hyperglycinemia OMIM:220120
Cystinosis
Hypokalemia, Renal tubular dysfunction, Proteinuria, Aminoaciduria, Nephropathy, Renal insufficie... ORPHA:213
Leber Congenital Amaurosis 1
Hyperthreoninuria, Hyperthreoninemia OMIM:204000
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Hyperornithinemia ORPHA:414
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... OMIM:277900
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypercalciuria, Polyuria, Hyperphosphaturia, Aminoaciduria, Calcinosis, Hypophosph... OMIM:239200
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Glycosuria, Renal tubular dysfunction, Proteinuria, Conjugated hyperbi... OMIM:210550
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Hyperprolinemia, Prolinuria, Hydroxyprolinuria... ORPHA:79101
Monocarboxylate Transporter 1 Deficiency
Ketonuria OMIM:616095
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria OMIM:273400
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Proteinuria OMIM:603585
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Glycosuria, Renal tubular acidosis, Nephrocalcinosis, Hypercalciuria, ... ORPHA:2088
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Ketonuria, Elevated urinary 3-hydroxybutyric acid OMIM:245050
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hypertriglyceridemia, Hy... OMIM:603471
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... OMIM:220110
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Hypertyrosinemia OMIM:276600
Canavan Disease
Elevated urinary N-acetylaspartic acid level, Increased circulating N-Acetylaspartic acid concent... OMIM:271900
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Hyperhomocystinemia, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine... OMIM:251120
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glycosuria, Renal cortical cysts, Proximal tubulopathy, Polycystic kid... OMIM:231680
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Calcinosis, Renal hypoplasia, Hydronephrosis OMIM:617913
Infantile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Renal Fanconi syndrome, Renal tubular dysfunction, Abnormal blood ion co... ORPHA:411629
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, Proteinuria, Hyperphosphaturia, Am... ORPHA:436271
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Elevated circulating creatine kinase concentration, Aminoaciduria, Methylmalonic aciduria, Methyl... OMIM:612073
Autism, Susceptibility To, 3
Ketonuria OMIM:608049
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria OMIM:249270
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Hematuria, Renal insufficiency, Hyperoxaluria, Calcium oxalate nephrolithiasis OMIM:259900
Distal Renal Tubular Acidosis
Renal cyst, Hypermagnesiuria, Nephrocalcinosis, Nephrolithiasis, Hypokalemia, Hypocitraturia, Hyp... ORPHA:18
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Decreased plasma carnitine, Medium chain dicarboxylic aciduria, Hyperglycinuria OMIM:201450
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Increased urinary sulfite, Increased urinary thiosulfate, Decreased urinary urate, D... OMIM:252150
Sialidosis Type 1
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... ORPHA:812
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hypergl... ORPHA:941
Lowe Oculocerebrorenal Syndrome
Renal Fanconi syndrome, Bicarbonaturia, Proteinuria, Hypercholesterolemia, Hyperphosphaturia, Ele... OMIM:309000
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria OMIM:601539
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninuria, Homocystinuria, Hyperhomocystinemia, Methylmalonic aciduria, Hematuria, Hemolyt... OMIM:277400
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Homocystinuria, Hyperhomocystinemia, Methylmalonic aciduria, Methylmalonic acidemia, Hypomethioni... OMIM:277410
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Aminoaciduria OMIM:614520
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Methylmalonic acidemia, Hyperhomocystinemia OMIM:614857
Isovaleric Acidemia
Hyperglycinuria OMIM:243500
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninuria, Homocystinuria, Hyperhomocystinemia, Methylmalonic aciduria, Methylmalonic acid... OMIM:277380
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria, Nephrolithiasis OMIM:606407
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertaurinemia, Hypocystinemia, Increased urinary taurine, Hypouricemia OMIM:615501
Bruck Syndrome 2
Hydroxyprolinuria OMIM:609220
Hartnup Disease
Abnormal urinary color, Neutral hyperaminoaciduria ORPHA:2116
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Organic aciduria, Hyperglycinuria, Acute hyperammonemia OMIM:210210
Argininosuccinic Aciduria
Oroticaciduria, Hypoargininemia, Aminoaciduria, Hyperglutaminemia, Episodic ammonia intoxication,... OMIM:207900
Netherton Syndrome
Aminoaciduria, Ectopic kidney, Hydronephrosis ORPHA:634
Cystinosis, Nephropathic
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal Fanconi syndrome, Nephrolithiasis, Hypo... OMIM:219800
Paget Disease Of Bone 5, Juvenile-Onset
Hypercalciuria, Hydroxyprolinuria, Hyperuricemia, Hyperphosphatemia, Hydroxyprolinemia, Increased... OMIM:239000
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Increased urinary taurine, Hypouricemia, Increased urinary hypoxanthine, Xanthine ne... OMIM:252160
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria OMIM:602080
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Polycystic kidney dysplasia OMIM:214110
Fumarase Deficiency
Aminoaciduria, Hyperbilirubinemia OMIM:606812
Argininemia
Diaminoaciduria, Oroticaciduria, Hyperargininemia, Hyperammonemia OMIM:207800
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Membranous nephropathy, Hyperammonemia, Decreased... ORPHA:470
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Propionic Acidemia
Hyperglycinemia, Increased level of hippuric acid in urine, Hyperammonemia, Hyperglycinuria OMIM:606054
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Hypermethioninemia, Hyperhomocystinemia, Methioninuria OMIM:236200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis OMIM:616084
Leigh Syndrome
Generalized aminoaciduria, Renal tubular acidosis, Methylmalonic aciduria, Nephrotic syndrome, Re... ORPHA:506
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Tubulointerstitial nephritis OMIM:124000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia OMIM:619055
Hyperlysinemia
Hyperlysinemia, Cystinuria, Hyperlysinuria, Hypoornithinemia, Argininuria, Decreased urine alpha-... ORPHA:2203
Kanzaki Disease
Aminoaciduria, Increased urinary O-linked sialopeptides OMIM:609242
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Aminoaciduria, Albuminuria, Hypospadias, Elevated circ... OMIM:214100
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal interstitial edema, Renal Fanconi syndrome, Elevated circulating creatinine concentration, ... ORPHA:91500
Lysinuric Protein Intolerance
Oroticaciduria, Increased circulating ferritin concentration, Aminoaciduria, Stage 5 chronic kidn... OMIM:222700
Interstitial Lung And Liver Disease
Aminoaciduria, Hyperammonemia OMIM:615486
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Hypokalemia, Nephrocalcinosis, Hyponatremia, Nephrolithiasis, H... ORPHA:534
Alkaptonuria
Aminoaciduria, Nephrolithiasis ORPHA:56
X-Linked Intellectual Disability, Armfield Type
Aminoaciduria, Organic aciduria, Galactosuria ORPHA:85276
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Homocystinuria, Cystathioninemia, Hypomethioninemia, Hyperhomocystinemia ORPHA:395
Xeroderma Pigmentosum
Aminoaciduria ORPHA:910
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Hypotriglyceridemia, Decreased LDL cholesterol concentration ORPHA:404454
Aspartylglucosaminuria
Aspartylglucosaminuria ORPHA:93
Aspartylglucosaminuria
Aspartylglucosaminuria OMIM:208400

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 Prodh2

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 Prodh2.

No publications found that use IMPC mice or data for Prodh2.

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MGI Allele Allele Type Produced
Prodh2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Prodh2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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