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Gene: Mocs1 MGI:1928904

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

molybdenum cofactor synthesis 1

Synonyms:

3110045D15Rik

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 Mocs1 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.

Human diseases associated with Mocs1 (1 diseases)
Human diseases predicted to be associated with Mocs1 (258 diseases)

The table below shows human diseases associated to Mocs1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Molybdenum Cofactor Deficiency, Complementation Group A		Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, I...	OMIM:252150

The table below shows human diseases predicted to be associated to Mocs1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ichthyosis, Split Hairs, And Amino Aciduria	Abnormal hair morphology, Aminoaciduria	OMIM:242550
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Threoninemia	Hyperthreoninuria	OMIM:273770
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Carnosinemia	Carnosinuria	OMIM:212200
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Glyoxalase deficiency, Reduced glutathione synth...	OMIM:231900
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Hydroxykynureninuria	Aminoaciduria, Jaundice	OMIM:236800
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Cystathioninuria	Cystathioninuria	OMIM:219500
Phenylketonuria	Aminoaciduria	ORPHA:716
5-Oxoprolinase Deficiency	Reduced 5-oxoprolinase level, Increased level of L-pyroglutamic acid in urine, Prolinuria, Calciu...	OMIM:260005
Galactosemia Iii	Aminoaciduria, Galactosuria, Jaundice, Decreased beta-galactosidase activity	OMIM:230350
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Elevated circulating alanine aminotransferase concentration, Elevated circulating asp...	OMIM:615158
Hyper-Beta-Alaninemia	Increased urinary taurine	OMIM:237400
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Homocarnosinosis	Carnosinuria	OMIM:236130
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c...	OMIM:300555
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level	OMIM:229100
Tyrosinemia Type 1	Acute hepatic failure, Generalized aminoaciduria	ORPHA:882
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239500
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice	ORPHA:79238
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Gracile Syndrome	Aminoaciduria	OMIM:603358
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Valinemia	Valinuria	OMIM:277100
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Hyperlysinemia, Type I	Hyperlysinuria	OMIM:238700
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi...	ORPHA:411536
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase level	OMIM:266130
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Jaundice	ORPHA:33574
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Methionine Malabsorption Syndrome	Aminoaciduria, White hair	OMIM:250900
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure	ORPHA:664
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinuria	OMIM:238750
Argininemia	Diaminoaciduria	ORPHA:90
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Familial Expansile Osteolysis	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration	OMIM:174810
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619386
Hypouricemia, Renal, 1	Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tubular epithelia...	OMIM:220150
Galactosemia I	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:230400
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect	Methylmalonic aciduria	OMIM:613646
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Glutathionuria	Reduced gamma-glutamyltransferase level, Urinary incontinence, Glutathionuria	OMIM:231950
Essential Fructosuria	Abnormal urine carbohydrate level, Abnormal circulating enzyme concentration or activity, Abnorma...	ORPHA:2056
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Decreased liver function, Hyperglutami...	OMIM:616299
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Increased phosphor...	ORPHA:411543
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Hypertryptophanemia	Tryptophanuria	OMIM:600627
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Argininosuccinic Aciduria	Abnormal hair quantity, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa	ORPHA:23
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Decreased succinic semialdehyde dehydrogenase level, Incr...	OMIM:271980
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Mac...	ORPHA:79233
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, E...	OMIM:616026
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Sulfite oxidase deficiency, Increased urinary sulfite level, Fine hair, Decreas...	OMIM:272300
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy	OMIM:612075
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Proteinuria, Jaundice, Nephrocalcinosis, Ren...	OMIM:613404
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Decreased methionine synthase activity, Homocystinuria	OMIM:250940
Glycine Encephalopathy 1	Hyperglycinuria	OMIM:605899
Dermotrichic Syndrome	Aminoaciduria, Nail dystrophy	ORPHA:99688
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria	OMIM:609560
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria	ORPHA:1933
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria	OMIM:309541
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria	ORPHA:163690
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia	OMIM:604273
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Aminoaciduria, Hypoplastic nipples	OMIM:273400
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Bilirubinuria, Jaundice, Intermittent jaun...	ORPHA:3111
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Decreased methionine synthase activity, Homocystinuria, Methylmalonic aciduria	OMIM:236270
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile	ORPHA:391417
Gyrate Atrophy Of Choroid And Retina	Abnormal hair morphology, Aminoaciduria	ORPHA:414
2P21 Microdeletion Syndrome	Long eyelashes, Nephrolithiasis, Cystinuria	ORPHA:163693
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, I...	OMIM:252150
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria	OMIM:235830
Molybdenum Cofactor Deficiency, Complementation Group C	Neonatal death, Increased urinary taurine, Molybdenum cofactor deficiency, Sulfite oxidase defici...	OMIM:615501
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria	ORPHA:2158
Fanconi-Bickel Syndrome	Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:2088
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Organic aciduria	ORPHA:35
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotransferase concen...	OMIM:227810
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Organic aciduria	OMIM:617184
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a...	ORPHA:79101
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Jaundice, Nephrocalcinosis, Renal tubular ac...	OMIM:208085
Hawkinsinuria	Sparse hair, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair	ORPHA:2118
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ...	ORPHA:213
Pyruvate Dehydrogenase Phosphatase Deficiency	Lacticaciduria	ORPHA:79246
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Tyrosinemia, Type Iii	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat...	OMIM:276710
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Argininosuccinic aciduria, Elevated ...	OMIM:603471
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopath...	OMIM:231680
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi...	ORPHA:634
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria	OMIM:249270
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:617950
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ...	OMIM:614105
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Jaundice, Bicarbonatur...	OMIM:229600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Hyperglycinuria	ORPHA:941
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialylated oligosac...	ORPHA:812
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Elevated alkaline phosphatase of bone origin, Chronic kidney di...	ORPHA:411634
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria	OMIM:614520
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Neonatal deat...	OMIM:605711
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Homocitrullinuria, Decreased liver function	OMIM:238970
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methionine synthase activity, Homocystinuria, Decreased methylmalonyl-CoA mutase activi...	OMIM:277410
Argininosuccinic Aciduria	Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentration, Aminoacidu...	OMIM:207900
Idiopathic Hypercalciuria	Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r...	ORPHA:2197
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Glycosuria	ORPHA:2089
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria	OMIM:619003
2,4-Dienoyl-Coa Reductase Deficiency	Reduced muscle 2,4-dienoyl-CoA reductase activity, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA ...	OMIM:616034
D-Glyceric Aciduria	Aminoaciduria, Reduced hepatic D-glycerate kinase activity, Micropenis	OMIM:220120
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria, Propionyl-CoA carboxylase deficiency	OMIM:210210
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Multiple Mitochondrial Dysfunctions Syndrome 3	Beta-aminoisobutyric aciduria	OMIM:615330
Hypotonia-Cystinuria Syndrome	Long eyelashes, Cystine crystalluria, Nephrolithiasis, Cystinuria	OMIM:606407
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria	ORPHA:6
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Sparse hair, Uric acid nephrolit...	OMIM:300661
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthi...	OMIM:252160
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic aciduria	OMIM:612073
Bruck Syndrome 2	Hydroxyprolinuria	OMIM:609220
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Lacticaciduria	OMIM:619063
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Xanthine ...	ORPHA:3467
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria	OMIM:251120
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Hyperparathyroidism, Neonatal Severe	Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria	OMIM:239200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Hemolytic-uremic syndro...	OMIM:277400
Glutaric Acidemia Type 3	Glutaric aciduria, Ketonuria	ORPHA:35706
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria	OMIM:618857
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Lesch-Nyhan Syndrome	Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria	OMIM:300322
Interstitial Lung And Liver Disease	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615486
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Homocystinuria, Methylmalonic aciduria	OMIM:614857
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
D-Lactic Aciduria With Gout	Lacticaciduria	OMIM:245450
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria,...	OMIM:140350
Xanthinuria, Type I	Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr...	OMIM:278300
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration	OMIM:602080
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Increased level of hippuric acid in urine, Hyperglycinuria	OMIM:606054
Fumarase Deficiency	Bilateral fetal pyelectasis, Decreased fumarate hydratase activity, Increased urine succinate lev...	OMIM:606812
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Alopecia, Lacticaciduria, Methylmalonic ac...	ORPHA:506
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Jaundice, Polycystic kidney dysplasia	OMIM:214110
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria, Brittle hair	OMIM:616084
Wilson Disease	Acute hepatic failure, Hyperphosphaturia, Proteinuria, Elevated circulating aspartate aminotransf...	OMIM:277900
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration, Hypercalciuria, Incre...	OMIM:239000
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria	OMIM:614946
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Portal hypertension, Jaundice, Generalized aminoaciduria, Hepatic ...	OMIM:251880
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating alkaline phosphatase concentration, Generalized aminoaciduria	OMIM:264700
Glutaric Aciduria Iii	Reduced peroxisomal glutaryl-CoA oxidase activity, Glutaric aciduria	OMIM:231690
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Lacticaciduria, Tubulointerstitial...	OMIM:124000
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninuria, Decreased methionine synthase activity, Homocystinuria, Methylmalonic aciduria	OMIM:277380
Orotic Aciduria	Hematuria, Oroticaciduria, Orotic acid crystalluria, Reduced orotidine 5-prime phosphate decarbox...	OMIM:258900
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal death, Aminoaciduria	OMIM:619055
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxyli...	OMIM:613070
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat...	OMIM:619355
Richards-Rundle Syndrome	Ketonuria	ORPHA:1399
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Brittle hair, Homocystinuria	OMIM:236200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Renal steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic ...	OMIM:261680
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, Lacticaciduria, Elevated urine aceto...	OMIM:615751
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hypopigmentation of hair, Stage 5 ...	OMIM:219800
Lysinuric Protein Intolerance	Stage 5 chronic kidney disease, Fine hair, Aminoaciduria, Hyperlysinuria, Sparse hair, Oroticacid...	OMIM:222700
Tyrosinemia, Type Ii	Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria	OMIM:276600
Argininemia	Diaminoaciduria, Oroticaciduria	OMIM:207800
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria	OMIM:210200
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating aspartate aminotransferase concentration, Lacticaciduria, Elevated gamma-glu...	OMIM:615595
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria	OMIM:620089
Hyperlysinemia	Abnormal circulating enzyme concentration or activity, Argininuria, Cystinuria, Decreased urine a...	ORPHA:2203
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Prolonged neonatal jaundice, Renal cortical microcysts, ...	OMIM:214100
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Generalized aminoaciduria	ORPHA:289157
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ...	OMIM:246450
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis	OMIM:617913
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Ketonuria, Elevated hepatic transaminase	OMIM:615453
Glutaric Acidemia I	Reduced peroxisomal glutaryl-CoA oxidase activity, Glutaric aciduria, Ketonuria	OMIM:231670
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulo...	ORPHA:470
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Alkaptonuria	Aminoaciduria, Nephrolithiasis	ORPHA:56
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Abnormal circulating enzyme concentration or activity, Homocystinuria	ORPHA:395
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Ketonuria, Lacticaciduria	OMIM:619167
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Organic aciduria, Galactosuria	ORPHA:85276
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, Renal interstitial e...	ORPHA:91500
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Alopecia, Organic aciduria, 3-hydroxyisovaleric a...	OMIM:253270
Methylmalonic Aciduria, Cbla Type	Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Elevated urine 2...	OMIM:251100
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Ketonuria, Methylmalonic aciduria	OMIM:251110
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Sparse scalp hair, Proteinuria, Proximal renal tubular acido...	ORPHA:534
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria	ORPHA:79644
Xeroderma Pigmentosum	Alopecia, Aminoaciduria	ORPHA:910
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Generalized aminoaciduria	ORPHA:404454
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Elevated circulati...	OMIM:311250
Liver Disease, Severe Congenital	Elevated hepatic transaminase, Recurrent urinary tract infections, Dry hair, Hypospadias, Intrahe...	OMIM:619991
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Myoglobinuria, Ketonuria	OMIM:616878
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Elevated hepatic transaminase, Increased urinary glycerol, Ketonuria, Jaundice,...	ORPHA:247598
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ketonuria	ORPHA:480864
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria	OMIM:616457
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Aciduria, Jaundice, 3-Methylglutaconic acid...	OMIM:203700
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, 3-Methylglutaric aciduria, Ketonuria, Jaundice	ORPHA:20
Beta-Ketothiolase Deficiency	Ketonuria	ORPHA:134
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hemolytic-uremic syndrome, Jaundice, Methylmaloni...	ORPHA:79282
Aspartylglucosaminuria	Aspartylglucosaminuria	ORPHA:93
Aspartylglucosaminuria	Aspartylglucosaminuria	OMIM:208400
Scorpion Envenomation	Ketonuria, Elevated circulating aspartate aminotransferase concentration, Glycosuria, Increased c...	ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Highly arched eyebrow, Low anterior hairline, Hirsutism	OMIM:220111

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 Mocs1

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 Mocs1.

No publications found that use IMPC mice or data for Mocs1.

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
Mocs1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Mocs1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mocs1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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