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Genes Phenotypes Help, News, Blog

Gene: Abcc6 MGI:1351634

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
Synonyms:
Mrp6,  Dyscalc1,  DCC

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 Abcc6 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.

The table below shows human diseases predicted to be associated to Abcc6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial tortuosity, Decreased serum creatinine, Abnormal vascular... ORPHA:289601
Calcification Of Joints And Arteries
Coronary artery calcification, Femoral arterial calcification, Iliac arterial calcification, Inte... OMIM:211800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Vascular calcification, Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate ex... OMIM:211900
Primary Hyperoxaluria Type 1
Recurrent urinary tract infections, Enuresis, Stroke, Nephrocalcinosis, Decreased glomerular filt... ORPHA:93598
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis OMIM:610455
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Premature coronary artery atherosclerosis... OMIM:620058
Hypercalcemia, Infantile, 2
Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalc... OMIM:616963
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Ectopic calcification, Hypocalcemia, Low urinary cyclic... ORPHA:94090
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... OMIM:310468
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet... OMIM:308990
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Coronary artery calcification, Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Abdominal aortic calcification, Generalized arterial calcification... OMIM:208000
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Cerebral calcification, Hypocalcemia OMIM:146200
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Decreased glomerular filtration rate, Increased circulating renin level, Basal ... OMIM:601198
Calciphylaxis
Arterial calcification, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Calcification of the small brain vessels, Limb joint contracture, Basal ganglia calcification, De... OMIM:114100
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Subcutaneous calcification, Medullary nephrocalcinosis OMIM:617993
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... OMIM:161900
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Polyuria, Hypercal... OMIM:143880
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis OMIM:208155
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Hypophosphatemia, Nephrocalcinosis, Renal insufficiency, Hypercalciuria, Hyper... ORPHA:99879
Dent Disease 2
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating creatine kinase ... OMIM:300555
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... OMIM:611555
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Impaired urinary acidification, Hypokalemia, Nephrolithiasis, Hypocalcemia, Dis... OMIM:179800
Kenny-Caffey Syndrome, Type 2
Papilledema, Retinal calcification, Hyperphosphatemia, Basal ganglia calcification, Transient hyp... OMIM:127000
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Nephrocalcinosis, Renal magnesium wasting, Episodic hypokalemia, Renal potassium wasting, Hypomag... ORPHA:564178
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Nephrocalcinosis, Calcinosis, Renal artery stenosis, Hypokalemia, Hypocalcemia, A... OMIM:617913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypokalemia, Hypocalcemia, Polyuria, Hyponatremia, Hypomagnesemia OMIM:620152
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy OMIM:136550
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria OMIM:239199
Rare Circulatory System Disease
Vascular calcification, Abnormal systemic arterial morphology, Arterial tortuosity, Abnormal vasc... ORPHA:98028
Pseudoxanthoma Elasticum, Forme Fruste
Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc... OMIM:177850
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ... ORPHA:93599
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Renal insufficiency, Hematuria, Hyperoxaluria OMIM:260000
Generalized Arterial Calcification Of Infancy
Stroke, Pancreatic calcification, Nephrocalcinosis, Abnormal calcification of the carpal bones, C... ORPHA:51608
Primary Hyperoxaluria Type 3
Calcium oxalate nephrolithiasis, Abnormal renal physiology, Nephrocalcinosis, Hematuria, Dysuria,... ORPHA:93600
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypocalcemic seizures, Hyperphosphatemia, Retinal calcification, Basal ganglia calci... ORPHA:93325
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Chronic kidney disease, Renal cyst, Nephropathy, Vascular dilatation, Focal segmen... OMIM:617056
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Nephrocalcinosis, Chronic kidney disease, Renal magnesium was... OMIM:248190
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalciuria, Aminoaciduria, Polyuria, Hyperphosphaturia, Hyperca... OMIM:239200
Alkaptonuria
Coronary artery calcification, Decreased glomerular filtration rate, Aortic aneurysm, Elevated ur... OMIM:203500
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis, Hypokalemia OMIM:267200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypokalemia, Renal potassium wasting, Polyuria, Hypoma... OMIM:618314
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Gl... OMIM:614817
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Ectopic calcification, Hypocalcemia, Low urinary cyclic... ORPHA:94089
Apparent Mineralocorticoid Excess
Stroke, Nephrocalcinosis, Left ventricular hypertrophy, Renal insufficiency, Hypokalemia, Renal s... ORPHA:320
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Nephrocalcinosis, Optic neuropathy, Renal insufficiency, Choroid... OMIM:259900
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Hypercalciuria OMIM:602722
Basal Ganglia Calcification, Idiopathic, 1
Dense calcifications in the cerebellar dentate nucleus, Urinary incontinence, Abnormal circulatin... OMIM:213600
Blue Diaper Syndrome
Blue urine, Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia ORPHA:94086
Primary Membranoproliferative Glomerulonephritis
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... ORPHA:54370
Alport Syndrome 3, Autosomal Dominant
Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Stage 5 chronic kidney ... OMIM:104200
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Rod-cone dystrophy, Nephrocalcinosis OMIM:615633
Retinoblastoma
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis OMIM:180200
Macular Dystrophy, Patterned, 1
Pattern dystrophy of the retina, Yellow/white lesions of the retina, Dark choroid, Macular dystro... OMIM:169150
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate, Elevated circulating creatinine concentration OMIM:242530
Alkaptonuria
Coronary artery calcification, Mitral valve calcification, Nephrolithiasis, Intervertebral disk c... ORPHA:56
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron... OMIM:146255
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... OMIM:614723
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Increased circulating renin level, Increased urinary potassiu... OMIM:607364
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Basal ganglia calcification, Hyperphosphatemia, Cerebral calcification, Ch... ORPHA:79444
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Retinal calcification, Abnormality of retinal pigmentat... ORPHA:790
Bartter Syndrome, Type 5, Antenatal, Transient
Hypochloremia, Increased circulating renin level, Hypokalemia, Medullary nephrocalcinosis, Hyperc... OMIM:300971
Dent Disease 1
Microscopic hematuria, Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphat... OMIM:300009
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Distal renal tubular acidosis, Nephrocalcinosis, Hypokalemia, Isothenuria OMIM:611590
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Stroke, Nephrocalcinosis, Hypocalcemia, Hypercalcemia ORPHA:557003
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Hyperlipidemia, Nail dystrophy, Abnormal hair morphology, Calcinosis ORPHA:90154
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Highly arched eyebrow, Facial hypotonia, Nephrocalcinosis ORPHA:500533
Arteriosclerosis, Severe Juvenile
Arteriosclerosis, Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcificati... OMIM:208060
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Glycosuria, Nephropathy, Conjugated hyperbilirubinemia, Right vent... OMIM:613404
Dent Disease
Renal hypophosphatemia, Proteinuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney dise... ORPHA:1652
Aortic Valve Disease 2
Coarctation of aorta, Aortic aneurysm, Calcification of the aorta, Ascending aortic dissection, A... OMIM:614823
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Renal phosphate wasting, Renal insuff... OMIM:300554
Gaucher Disease, Type Iii
Vascular calcification OMIM:231000
Hypouricemia, Renal, 1
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hypouricemia, Hyperuricosuria, Renal... OMIM:220150
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Chondrocalcinosis, Nephrocalcinosis, Hypocalcemic seizures, Hypermagnesem... ORPHA:405
Juvenile Dermatomyositis
Vasculitis, Alopecia, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:93672
Idiopathic Non-Lupus Full-House Nephropathy
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Renal insufficiency,... ORPHA:567544
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Basal ganglia calcification, Hyperphosphatemia, Cerebral calcification, Ch... ORPHA:79443
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Chronic kidney disease, Ren... OMIM:248250
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Aciduria, Nephrocalcinosis, Hyperoxaluria, Chronic kidney diseas... ORPHA:416
Osteoporosis-Pseudoglioma Syndrome
Vitreoretinopathy, Retinal calcification, Exudative retinopathy OMIM:259770
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Nephrocalcinosis, Phosphoethanolaminuria, Intracranial hemorrhage,... OMIM:241500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Camptodactyly, Calcinosis, Alopecia, Hyperlipidemia, Flexion contracture, Elbow flexion contractu... OMIM:248370
C3 Glomerulopathy
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... ORPHA:329918
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Proteinuria, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Hypouricemia, Aminoaciduria, Hyperph... OMIM:616026
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Elevated circulating creatinine co... OMIM:619468
Cockayne Syndrome Type 3
Stroke, Vascular calcification, Urinary retention, Retinal atrophy, Hydroureter, Premature corona... ORPHA:90324
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Nephrocalcinosis OMIM:617105
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular atrophy, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Nephropa... OMIM:208085
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Facial hypotonia, Nephrocalcinosis OMIM:611087
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Pseudoxanthoma Elasticum
Abnormal cerebral vascular morphology, Nephrocalcinosis, Retinopathy, Cerebral calcification, Ang... ORPHA:758
Homozygous Familial Hypercholesterolemia
Abnormal tendon morphology, Aortic atherosclerotic lesion, Increased LDL cholesterol concentratio... ORPHA:391665
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Nephrocalcinosis, Hypermagnesiuria, Hyperprostaglandinuria, Hepatic calcific... ORPHA:73224
Thrombotic Thrombocytopenic Purpura
Stroke, Proteinuria, Acute kidney injury, Renal insufficiency, Decreased serum creatinine, Hematuria ORPHA:54057
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis OMIM:613312
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Fanconi-Bickel Syndrome
Hypophosphatemia, Nephrocalcinosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglyceridemia... ORPHA:2088
Fanconi Renotubular Syndrome 3
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... OMIM:615605
Combined Oxidative Phosphorylation Deficiency 55
Enuresis, Hypophosphatemia, Myopathy, Renal Fanconi syndrome, Skeletal muscle atrophy, Elevated c... OMIM:619743
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Reduced blood urea... OMIM:300539
Preeclampsia
Proteinuria, Acute kidney injury, Chronic kidney disease, Elevated circulating creatinine concent... ORPHA:275555
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Hypochloremia, Nephrocalcinosis, Hyperchloriduria, Increased circulating renin... OMIM:601678
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Vasculitis, Abnormal internal carotid artery morphology, Thoracic aortic aneurysm, ... ORPHA:365
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Nephrocalcinosis, Knee flexion contracture, Hypercalciuria, Hip contracture, Hy... OMIM:156400
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Renal insufficien... ORPHA:79233
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Nephrocalcinosis, Renal cyst, Hydroureter, Hypercalciuria, Patent ductus arter... OMIM:615398
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... OMIM:612924
Rothmund-Thomson Syndrome
Sparse eyebrow, Alopecia totalis, Sparse hair, Sparse eyelashes, Calcinosis ORPHA:2909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Incr... OMIM:612925
Autosomal Dominant Polycystic Kidney Disease
Stage 5 chronic kidney disease, Enlarged kidney, Aortic root aneurysm, Decreased glomerular filtr... ORPHA:730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Proteinuria, Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hemat... OMIM:612926
Cryoglobulinemia, Familial Mixed
Proteinuria, Abnormal renal physiology, Chronic kidney disease, Hematuria, Elevated circulating c... OMIM:123550
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypermagnesiuria, Hyperphosphatemia, Alopecia, Hypercalciuria, Hypocalcemia, Op... ORPHA:428
Rothmund-Thomson Syndrome Type 1
Sparse or absent eyelashes, Alopecia totalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Cal... ORPHA:221008
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypokalemia, Reduced blood urea nitrogen, Hypomagnesemia, Proteinuria, My... OMIM:219800
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis cutis, Calcinosis OMIM:613471
Cockayne Syndrome
Vascular calcification, Retinal atrophy, Pigmentary retinopathy, Retinal dystrophy, Proteinuria, ... ORPHA:191
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration OMIM:616733
Rothmund-Thomson Syndrome Type 2
Sparse or absent eyelashes, Alopecia totalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Cal... ORPHA:221016
Amelogenesis Imperfecta, Type Ig
Enuresis, Nephrocalcinosis, Renal insufficiency, Polyuria, Impaired renal concentrating ability OMIM:204690
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Renal cyst, Renal insuffi... ORPHA:99880
Variant Abeta2M Amyloidosis
Abnormal skeletal muscle morphology, Chronic kidney disease, Renal amyloidosis, Abnormal vascular... ORPHA:314652
Intellectual Disability-Strabismus Syndrome
Micropenis, Synophrys, Medullary nephrocalcinosis, Achilles tendon contracture, Highly arched eye... ORPHA:363528
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Nephrocalcinosis, Pigmentary retinopathy, Alopecia, Nail dystrophy, Perifov... OMIM:240300
Parathyroid Carcinoma
Chondrocalcinosis, Renal hamartoma, Hypophosphatemia, Nephrocalcinosis, Renal cyst, Renal insuffi... ORPHA:143
Hypophosphatemic Rickets
Hypophosphatemia, Nephrocalcinosis, Renal phosphate wasting, Renal insufficiency, Calcification o... ORPHA:437
Familial Tumoral Calcinosis
Calcification of muscles, Nephrocalcinosis ORPHA:53715
Pulmonary Alveolar Microlithiasis
Stippled calcification in carpal bones, Gonadal calcification, Abnormal circulating calcium conce... ORPHA:60025
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hyperuricemia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Tubulointers... OMIM:174000
Bartter Syndrome Type 4
Acute kidney injury, Hypochloremia, Nephrocalcinosis, Chronic kidney disease, Stage 5 chronic kid... ORPHA:89938
Distal Renal Tubular Acidosis
Hypocitraturia, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesiuria, Renal c... ORPHA:18
Bartter Syndrome, Type 2, Antenatal
Chondrocalcinosis, Hypochloremia, Nephrocalcinosis, Hyperchloriduria, Increased circulating renin... OMIM:241200
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine OMIM:617744
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Hirsutism, Patent ductus arteriosus, Joint contracture OMIM:618005
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, 3-Methylglutaconic aciduria, Nephrocalcinosis, Renal cyst ORPHA:445038
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Elevated circulating alpha-fetoprote... OMIM:613095
Rabson-Mendenhall Syndrome
Macroglossia, Nephrocalcinosis, Thick hair, Premature graying of hair, Low anterior hairline, Inc... ORPHA:769
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis ORPHA:2290
Thrombotic Thrombocytopenic Purpura, Hereditary
Stroke, Proteinuria, Abnormal renal physiology, Microscopic hematuria, Hemolytic-uremic syndrome,... OMIM:274150
Gaucher Disease, Type Iiic
Aortic valve calcification, Calcification of the aorta, Mitral valve calcification OMIM:231005
Structural Heart Defects And Renal Anomalies Syndrome
Right aortic arch, Tetralogy of Fallot, Renal cyst, Renal insufficiency, Interrupted aortic arch,... OMIM:617478
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair, Rod-cone dystrophy, Nephrocalcinosis, Aminoaciduria OMIM:616084
Lesch-Nyhan Syndrome
Hyperuricosuria, Nephrolithiasis, Nephrocalcinosis, Hyperuricemia OMIM:300322
Senior-Loken Syndrome 1
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Tubulointerstitial fibrosi... OMIM:266900
Gaisböck Syndrome
Stroke, Nephrocalcinosis, Hypernatriuria, Increased circulating renin level, Hyperuricemia, Hyper... ORPHA:90041
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Renal cyst, Congenital megaureter, Hypercalciuria, Renal dysplasia, Hypertrigly... ORPHA:369837
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Hydronephrosis, Antenatal intracerebral hemorrhage, Hyperammonemia, ... OMIM:608836
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Aapoaiv Amyloidosis
Proteinuria, Chronic kidney disease, Hyperlipidemia, Glomerular sclerosis, Coronary artery athero... ORPHA:439232
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... OMIM:614376
Tyrosinemia, Type I
Nephrocalcinosis, Enlarged kidney, Elevated circulating alpha-fetoprotein concentration, Renal Fa... OMIM:276700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Proximal Renal Tubular Acidosis
Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Hypokalemia, Hyper... ORPHA:47159
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Functional abnormality of the bladder, Renal artery steno... ORPHA:391487
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Enamel-Renal Syndrome
Enuresis, Nephrocalcinosis, Renal insufficiency, Nephropathy, Hypocalciuria, Hypophosphaturia, Im... ORPHA:1031
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Alport Syndrome
Glomerular basement membrane lamellation, Mesangial hypercellularity, Abnormal aortic morphology,... ORPHA:63
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... OMIM:615558
Oligomeganephronia
Proteinuria, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Renal insuffic... ORPHA:2260
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatine kinase concentration, Elevated circulating creatinin... OMIM:620138
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Oculocerebrorenal Syndrome Of Lowe
Proximal renal tubular acidosis, Proteinuria, Chorioretinal dysplasia, Glomerulopathy, Nephrocalc... ORPHA:534
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Patent ductus arteriosus, Elevated circulating creatinine concentration OMIM:608104
Familial Bicuspid Aortic Valve
Coarctation of aorta, Aortic arch aneurysm, Thoracic aorta calcification, Ascending aortic dissec... ORPHA:402075
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Acute kidney injury, Large vessel vasculitis, Ureteropelvic junction obstruction,... ORPHA:49041
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Increased blood urea nitrogen, Hyperlipidemia, An... OMIM:235400
Papillorenal Syndrome
Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C... OMIM:120330
Juvenile Nephropathic Cystinosis
Microscopic hematuria, Proteinuria, Hypophosphatemia, Stage 5 chronic kidney disease, Chronic kid... ORPHA:411634
Trisomy 8P
Hydronephrosis, Nephrocalcinosis, Micropenis, Fetal pyelectasis, Tetralogy of Fallot, Low posteri... ORPHA:264450
Relapsing Fever
Acute kidney injury, Increased total bilirubin, Hematuria, Elevated circulating C-reactive protei... ORPHA:91547
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Decreased glomerular filtrat... ORPHA:85450
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, Hyperuricemia, Hy... ORPHA:79259
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic acid concentration, ... OMIM:618156
Pauci-Immune Glomerulonephritis
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Small vessel vasculi... ORPHA:93126
Beckwith-Wiedemann Syndrome
Macroglossia, Renal cortical cysts, Diastasis recti, Nephrocalcinosis, Enlarged kidney, Nephrolit... OMIM:130650
Williams Syndrome
Stroke, Abnormal tubulointerstitial morphology, Renal duplication, Nephrocalcinosis, Tetralogy of... ORPHA:904
Aicardi-Goutières Syndrome
Micropenis, Aortic aneurysm, Calcification of the aorta, Cerebral calcification, Moyamoya phenome... ORPHA:51
Robinow Syndrome, Autosomal Recessive 1
Macroglossia, Hydronephrosis, Long eyelashes, Renal duplication, Nephrocalcinosis, Micropenis, Ne... OMIM:268310
46,Xy Sex Reversal 4
Hydronephrosis, Ureteropelvic junction obstruction, Increased blood urea nitrogen, Elevated circu... OMIM:154230
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Myocardial necrosis OMIM:260400
Familial Mediterranean Fever
Vasculitis, Proteinuria, Nephrocalcinosis, Nephropathy, Nephrotic syndrome ORPHA:342
Williams-Beuren Syndrome
Abnormal renal morphology, Stroke, Nephrocalcinosis, Pelvic kidney, Recurrent urinary tract infec... OMIM:194050
Arthrogryposis Multiplex Congenita 5
Camptodactyly, Arthrogryposis multiplex congenita, Optic disc pallor, Medullary nephrocalcinosis,... OMIM:618947
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Acute kidney injury, Decreased urine output, Elevated circulating creatinine ... ORPHA:542323
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Synophrys, Hypercalciuria, Renal dysplasia, Patent ductus arteriosus OMIM:300990
Diffuse Alveolar Hemorrhage
Proteinuria, Hematuria, Elevated circulating creatinine concentration ORPHA:90060
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Proteinuria, Nephropathy, Cerebral calcification, Glomerular sclerosis, Punctate vasculitis skin ... ORPHA:247691
Leprechaunism
Nephrocalcinosis, Facial hypertrichosis, Enlarged kidney, Increased circulating renin level, Skel... ORPHA:508
Floating-Harbor Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Dilatation of the renal pelvis, Coarctation of aorta... ORPHA:2044
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia OMIM:266510
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary incontinence, Decreased ser... OMIM:618885
Floating-Harbor Syndrome
Hydronephrosis, Long eyelashes, Coarctation of aorta, Nephrocalcinosis, Low posterior hairline, G... OMIM:136140
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Renal Cysts And Diabetes Syndrome
Proteinuria, Decreased numbers of nephrons, Hyperuricemia, Stage 5 chronic kidney disease, Glycos... OMIM:137920
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulat... OMIM:223900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Calcification of the aorta, Varicose veins, Mitral valve calcification, Aortic valve... ORPHA:2072
Dopamine Beta-Hydroxylase Deficiency
Nocturia, Elevated urinary dopamine, Increased blood urea nitrogen, Elevated circulating creatini... ORPHA:230
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Micropenis OMIM:618810
Tangier Disease
Coronary artery stenosis, Carotid artery stenosis, Hypertriglyceridemia, Accelerated atherosclero... ORPHA:31150
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... ORPHA:52427
Cutis Laxa, Autosomal Recessive, Type Iic
Camptodactyly, Nephrocalcinosis, Micropenis, Knee flexion contracture, Prominent superficial veins OMIM:617402
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Renal insufficiency, Elevated circulating creatine kinase concentration, Hypo... ORPHA:36234
Igg4-Related Kidney Disease
Enlarged kidney, Urethritis, Albuminuria, Abnormal aortic morphology, Hydronephrosis, Proteinuria... ORPHA:449395
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Multiple Myeloma
Acute kidney injury, Hyperproteinemia, Nephropathy, Nephrotic syndrome, Hypercalcemia, Elevated c... ORPHA:29073
Doors Syndrome
Hydronephrosis, Nephrocalcinosis, Low anterior hairline, Double outlet right ventricle, Optic atr... ORPHA:79500
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Steatorrhea, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, ... OMIM:212065
Hemorrhagic Fever-Renal Syndrome
Proteinuria, Glomerulonephritis, Acute kidney injury, Decreased urine output, Decreased glomerula... ORPHA:340
Sarcoidosis
Nephrocalcinosis, Tubulointerstitial nephritis, Renal insufficiency, Alopecia, Hypercalciuria, Fa... ORPHA:797
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circu... ORPHA:96180
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Unconjugated hyperbilirubinemia, Anuria, Hyponatremia, Hemoglob... ORPHA:90038
Biliary, Renal, Neurologic, And Skeletal Syndrome
Pulmonary artery dilatation, Hydronephrosis, Dilatation of the renal pelvis, Stage 5 chronic kidn... OMIM:619534
Alg12-Cdg
Micropenis, Patent ductus arteriosus, Hypospadias, Hypocholesterolemia, Hyponatremia, Hypoalbumin... ORPHA:79324
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Cardiomyopathy, Myocardial calcification OMIM:234700
Tubulointerstitial Nephritis And Uveitis Syndrome
Microscopic hematuria, Decreased glomerular filtration rate, Tubulointerstitial nephritis, Beta 2... ORPHA:91500
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Steatorrhea, Hyperbilirubinemia, Decreased HDL cholester... ORPHA:14
Dubowitz Syndrome
Hypoplasia of the iris, Hypocholesterolemia, Iris coloboma, Hypospadias OMIM:223370
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Coarctation of aorta OMIM:244450
Pseudoxanthoma Elasticum
Stroke, Retinal peau d'orange, Macular degeneration, Choroidal neovascularization, Accelerated at... OMIM:264800
Smith-Lemli-Opitz Syndrome
Hydronephrosis, Coarctation of aorta, Micropenis, Penoscrotal hypospadias, Renal cyst, Elevated 7... OMIM:270400
Marburg Hemorrhagic Fever
Hyperammonemia, Renal insufficiency, Hypokalemia, Elevated circulating creatine kinase concentrat... ORPHA:99826
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Decreased prealbumin level, Reduced circulating transferrin concent... ORPHA:90363
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Mitral valve calcification, High anterior hairline, Aortic arch calcificati... OMIM:182250
Yellow Fever
Acute kidney injury, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyp... ORPHA:99829

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 Abcc6

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 Abcc6.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Science translational medicine (June 2017) Abcc6tm1a(EUCOMM)Wtsi PMC5606141

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Abcc6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abcc6tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abcc6tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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