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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 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, Abnormal vascular morphology, Decreased serum... ORPHA:289601
Calcification Of Joints And Arteries
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi... OMIM:211800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis OMIM:610455
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Ectopic calcification, Low urinary cyclic AMP respon... ORPHA:94090
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Hypophosphatemic rickets, Arterial calcification, Coronary artery calcification OMIM:614473
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... OMIM:208000
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Hypocalcemia, Autosomal Dominant 1
Basal ganglia calcification, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hype... OMIM:601198
Calciphylaxis
Hyperphosphatemia, Arterial calcification, Stage 5 chronic kidney disease ORPHA:280062
Hypoparathyroidism, Familial Isolated, 1
Cerebral calcification, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De... OMIM:114100
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria, Subcutaneous calcification OMIM:617993
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... ORPHA:99879
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Basal ganglia calcification, Retinal calcification, Hype... OMIM:127000
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypok... OMIM:617913
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria OMIM:239199
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Generalized Arterial Calcification Of Infancy
Medial calcification of large arteries, Cerebral calcification, Choroidal neovascularization, Adr... ORPHA:51608
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Macular coloboma, Renal magnesium wasting, Chronic kidney dis... OMIM:248190
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Basal ganglia calcification, Retinal calcification, Hyperphosphatemia, Hypocalcemic ... ORPHA:93325
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Alkaptonuria
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... OMIM:203500
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... OMIM:239200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Ectopic calcification, Low urinary cyclic AMP respon... ORPHA:94089
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst... OMIM:259900
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypertensive retinopathy, Abnormal urine sodium concentration, Nephrocalcino... ORPHA:320
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Abnormal circulating calcium concentration, Basal ganglia calcification, Ca... OMIM:213600
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria OMIM:602722
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Drusen, Chronic kidney disease, Stage 5 chronic kidney disease,... ORPHA:54370
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Rod-cone dystrophy OMIM:615633
Retinoblastoma
Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma OMIM:180200
Alkaptonuria
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Nephrolith... ORPHA:56
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Macular Dystrophy, Patterned, 1
Choroidal neovascularization, Absent foveal reflex, Reticular retinal dystrophy, Yellow/white les... OMIM:169150
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Basal ganglia calcification, Chronic kidney disease, Thickened glomerular basement m... OMIM:146255
Pseudohypoparathyroidism Type 1C
Calcinosis, Cerebral calcification, Basal ganglia calcification, Choroid plexus calcification, Hy... ORPHA:79444
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... OMIM:614723
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Retinoblastoma
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... ORPHA:790
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Oculoskeletodental Syndrome
Hypercalcemia, Nephrocalcinosis, Abnormality of the frontal hairline, Stroke, Hypocalcemia ORPHA:557003
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy ORPHA:90154
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Arteriosclerosis, Severe Juvenile
Central fundal arteriolar microaneurysms, Chronic kidney disease, Central retinal vessel vascular... OMIM:208060
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis OMIM:611590
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Decreased muscle mass, Facial hypotonia, Highly arched eyebrow ORPHA:500533
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Aortic Valve Disease 2
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... OMIM:614823
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Gaucher Disease, Type Iii
Vascular calcification OMIM:231000
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... OMIM:613404
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Juvenile Dermatomyositis
Calcinosis, Alopecia, Myositis, Elevated circulating creatine kinase concentration, Elevated circ... ORPHA:93672
Idiopathic Non-Lupus Full-House Nephropathy
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... ORPHA:567544
Pseudohypoparathyroidism Type 1A
Calcinosis, Cerebral calcification, Basal ganglia calcification, Choroid plexus calcification, Hy... ORPHA:79443
Primary Hyperoxaluria
Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol... ORPHA:416
Osteoporosis-Pseudoglioma Syndrome
Retinal calcification, Exudative retinopathy, Vitreoretinopathy OMIM:259770
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... OMIM:241500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Flexion contracture, Elbow flexion contr... OMIM:248370
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, Aminoaciduria, ... OMIM:616026
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Dry hair, Basal ganglia calcification, Flexion contracture, Premature gr... ORPHA:90324
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... ORPHA:329918
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Stage 5 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:619468
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Flexion contracture OMIM:617105
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... ORPHA:157215
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub... OMIM:208085
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Facial hypotonia OMIM:611087
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Optic neuropathy, Precocious atherosclerosis, Abnormal internal carot... ORPHA:391665
Pseudoxanthoma Elasticum
Cerebral calcification, Abnormal cerebral vascular morphology, Retinal hemorrhage, Angioid streak... ORPHA:758
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... ORPHA:73224
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Hematuria, Stroke, Decreased serum creatinine, Acute kidney injury ORPHA:54057
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Elevated circulating creatine kinase con... OMIM:619743
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accumulation in mu... ORPHA:365
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Prote... ORPHA:275555
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... OMIM:601678
Autosomal Dominant Hypocalcemia
Alopecia, Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypom... ORPHA:428
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Knee flexion contracture, Neph... OMIM:156400
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Rothmund-Thomson Syndrome
Calcinosis, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Sparse hair ORPHA:2909
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Chronic kidney disease, Elevated circulating creatinine concentration, Stage... ORPHA:730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Rothmund-Thomson Syndrome Type 1
Calcinosis, Alopecia totalis, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the ... ORPHA:221008
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Cerebral calcification, Urinary incontinence, Basal ganglia ca... ORPHA:191
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... OMIM:123550
Cystinosis, Nephropathic
Skeletal muscle atrophy, Cerebral calcification, Aminoaciduria, Renal Fanconi syndrome, Low-molec... OMIM:219800
Reynolds Syndrome
Calcinosis, Calcinosis cutis, Hyperbilirubinemia OMIM:613471
Rothmund-Thomson Syndrome Type 2
Calcinosis, Alopecia totalis, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the ... ORPHA:221016
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation OMIM:616733
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Variant Abeta2M Amyloidosis
Abnormal vascular morphology, Chronic kidney disease, Abnormal skeletal muscle morphology, Renal ... ORPHA:314652
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:99880
Intellectual Disability-Strabismus Syndrome
Hypospadias, Highly arched eyebrow, Congenital diaphragmatic hernia, Synophrys, Achilles tendon c... ORPHA:363528
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Nephrocalcinosis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Nai... OMIM:240300
Parathyroid Carcinoma
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... ORPHA:143
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Mitral valve calcification, Abnormal circulating calcium concentration, ... ORPHA:60025
Familial Tumoral Calcinosis
Nephrocalcinosis, Calcification of muscles ORPHA:53715
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... OMIM:174000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst ORPHA:445038
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... OMIM:241200
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Joint contracture, Patent ductus arteriosus, Hirsutism OMIM:618005
Gaucher Disease, Type Iiic
Aortic valve calcification, Mitral valve calcification, Calcification of the aorta OMIM:231005
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Elevated circulating c... OMIM:613095
Rabson-Mendenhall Syndrome
Thick hair, Long penis, Low anterior hairline, Premature graying of hair, Nephrocalcinosis, Hypok... ORPHA:769
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Hemolytic-uremic syndrome, Elevated circulating creatinin... OMIM:274150
Gaisböck Syndrome
Hypertriglyceridemia, Peripheral arterial stenosis, Nephrocalcinosis, Hypernatriuria, Hyperprotei... ORPHA:90041
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Rod-cone dystrophy, Aminoaciduria, Brittle hair OMIM:616084
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria OMIM:300322
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Partial anomalous pulmonary venous return, Elevated circulating creatinine c... OMIM:617478
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin... OMIM:266900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephro... ORPHA:369837
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Intracerebral periventricular calcifications, Elevated... OMIM:608836
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Hyperlipidemia, Chronic kidney disease, Elevated ... ORPHA:439232
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Functional abnormality of the bladder, Renovascular hyper... ORPHA:391487
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
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614376
Tyrosinemia, Type I
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... OMIM:276700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Alport Syndrome
Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru... ORPHA:63
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Bilatera... ORPHA:2260
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Glomerulopathy, Renal insufficiency, Proteinuria, Chorioretinal ... ORPHA:534
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic valve calcification, Coarctation of aorta, Ascending aortic dissecti... ORPHA:402075
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... ORPHA:49041
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... OMIM:120330
Trisomy 8P
Multiple joint contractures, Fetal pyelectasis, Low posterior hairline, Nephrocalcinosis, Micrope... ORPHA:264450
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... ORPHA:79259
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Decreased LDL cholesterol concentratio... OMIM:618156
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... ORPHA:93126
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cerebral vascul... ORPHA:904
Beckwith-Wiedemann Syndrome
Diastasis recti, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Vesicoure... OMIM:130650
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cerebral calcification, Calcification of the aorta, Aortic... ORPHA:51
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Macroglossia, Long eyelashes, Micropenis, Hydronephrosis, Rena... OMIM:268310
46,Xy Sex Reversal 4
Ureteropelvic junction obstruction, Elevated circulating creatinine concentration, Hydronephrosis... OMIM:154230
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Myocardial necrosis OMIM:260400
Williams-Beuren Syndrome
Flexion contracture, Premature graying of hair, Nephrocalcinosis, Vesicoureteral reflux, Micropen... OMIM:194050
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... ORPHA:542323
Familial Mediterranean Fever
Proteinuria, Vasculitis, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Proteinuria ORPHA:90060
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cerebral calcification, Proteinuria, Elevated circulating creatinine concentration, Punctate vasc... ORPHA:247691
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Flexion contracture, Elbow flexion contracture, Camptodactyly, Arthrogryposis ... OMIM:618947
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Synophrys, Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Renal dysplasia OMIM:300990
Leprechaunism
Skeletal muscle atrophy, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increased cir... ORPHA:508
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... OMIM:618885
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Low posterior hairline, Nephrocalcinosis, Coarctation of aort... OMIM:136140
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio... OMIM:137920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Mitral valve calcification, Aortic valve calcification, Calcification of the aorta, ... ORPHA:2072
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... OMIM:223900
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... ORPHA:230
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, S... ORPHA:449395
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypocholesterolemia OMIM:618810
Cutis Laxa, Autosomal Recessive, Type Iic
Prominent superficial veins, Knee flexion contracture, Nephrocalcinosis, Camptodactyly, Micropenis OMIM:617402
Tangier Disease
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hypocholesterolemia, ... ORPHA:31150
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Elev... ORPHA:36234
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Optic atrophy, Low anterior hairline, Nephroca... ORPHA:79500
Multiple Myeloma
Hypercalcemia, Elevated circulating creatinine concentration, Nephrotic syndrome, Hyperproteinemi... ORPHA:29073
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Stroke-like episode, Nephrotic syndrome, Proximal tubulopathy, Hypoalbum... OMIM:212065
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Hyperkalemia, Elevated circulati... ORPHA:340
Sarcoidosis
Alopecia, Renal insufficiency, Facial palsy, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Neph... ORPHA:797
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dec... ORPHA:96180
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... ORPHA:90038
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Pulmonary artery dilatation, Renal insufficiency, Conjugated hyperbilirubinemia, Incr... OMIM:619534
Alg12-Cdg
Hyponatremia, Hypospadias, Patent ductus arteriosus, Hypoalbuminemia, Hypocholesterolemia, Microp... ORPHA:79324
Cardiogenic Shock
Elevated circulating creatinine concentration, Oliguria ORPHA:97292
Heart Block, Congenital
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node OMIM:234700
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91500
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta, Hypocholesterolemia OMIM:244450
Dubowitz Syndrome
Hypoplasia of the iris, Hypospadias, Iris coloboma, Hypocholesterolemia OMIM:223370
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of... OMIM:264800
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypospadias, Unilateral renal agenesis, Patent ductus arterio... OMIM:270400
Marburg Hemorrhagic Fever
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... ORPHA:99826
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve calcification, Muscle fiber atrophy, High anterior hairl... OMIM:182250
Yellow Fever
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... 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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