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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
Abnormal vascular morphology, Arterial tortuosity, Decreased serum creatinine, Arterial calcifica... ORPHA:289601
Calcification Of Joints And Arteries
Iliac arterial calcification, Femoral arterial calcification, Intervertebral disk calcification, ... OMIM:211800
Primary Hyperoxaluria Type 1
Calcinosis, Hematuria, Decreased glomerular filtration rate, Hyperoxaluria, Stroke, Recurrent uri... ORPHA:93598
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Angioid streaks of the fundus, Nephro... OMIM:211900
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Decreased cir... OMIM:620058
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia, Nephrocalcinosis OMIM:211000
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Arterial Calcification, Generalized, Of Infancy, 2
Arterial calcification, Hypophosphatemic rickets, Coronary artery calcification, Nephrocalcinosis OMIM:614473
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Periarticular calcification, Renal artery stenosis, Generalized arteria... OMIM:208000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypocalcemia, Hypercalciuria, Nephrolithiasis,... OMIM:601198
Calciphylaxis
Arterial calcification, Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypocalcemia, Cerebral calcification, Nephrocalcinosis, Hyperphosphatemia OMIM:146200
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy OMIM:603649
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta... OMIM:161900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis, Subcutaneous calcification OMIM:617993
Paget Disease Of Bone 6
Nephrocalcinosis, Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita OMIM:208155
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... OMIM:143880
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Basal ganglia calci... OMIM:127000
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Familial Isolated Hyperparathyroidism
Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosphatemia, Renal insuf... ORPHA:99879
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... 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
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... OMIM:179800
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Hyponatremia, Renal ... OMIM:617913
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Pseudoxanthoma Elasticum, Forme Fruste
Premature occlusive vascular stenosis, Angioid streaks of the fundus, Arteriosclerosis, Macular d... OMIM:177850
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis OMIM:239199
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Macular coloboma, Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagne... OMIM:248190
Generalized Arterial Calcification Of Infancy
Calcification of the aorta, Periarticular calcification, Cerebral calcification, Nephrocalcinosis... ORPHA:51608
Hyperoxaluria, Primary, Type Ii
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency OMIM:260000
Primary Hyperoxaluria Type 3
Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Pollakisuria, Dysuria, Abnormality of ... ORPHA:93600
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hyperoxaluria, Nephrocalcinosis, Hypocitraturia, Nephrolithiasis OMIM:620374
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Hyperuricemia, Renal cyst, Focal segmental glomerulosclerosis, Chronic kidne... OMIM:617056
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Retinal calcification, Papilledema, Basal ganglia calcification, Hypocalce... ORPHA:93325
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Glycosuria, Proteinuria, Elevated cir... OMIM:614817
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Hypophosphatemia, Aminoac... OMIM:239200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis, Hypokalemia OMIM:267200
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Cerebellar dentate nucleus calcification, Calcification of the small brain ... OMIM:213600
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Alkaptonuria
Decreased glomerular filtration rate, Aortic aneurysm, Nephrolithiasis, Thickened Achilles tendon... OMIM:203500
Hyperoxaluria, Primary, Type I
Optic atrophy, Hematuria, Choroidal neovascularization, Calcium oxalate nephrolithiasis, Hyperoxa... OMIM:259900
Apparent Mineralocorticoid Excess
Hypokalemia, Stroke, Decreased circulating renin level, Nephrocalcinosis, Left ventricular hypert... ORPHA:320
Blue Diaper Syndrome
Blue urine, Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia ORPHA:94086
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Drusen, Glomerular subendothelial electron-dense deposits, Nephrotic syndrom... ORPHA:54370
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Rod-cone dystrophy OMIM:615633
Retinoblastoma
Vitreous hemorrhage, Retinal calcification, Vitritis, Retinoblastoma OMIM:180200
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... OMIM:614723
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Hypocal... ORPHA:79444
Macular Dystrophy, Patterned, 1
Dark choroid, Pattern dystrophy of the retina, Macular dystrophy, Choroidal neovascularization, Y... OMIM:169150
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Thickened glom... OMIM:146255
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Retinoblastoma
Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Retinal calcification, Subretinal pigment epith... ORPHA:790
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Elevated circulating... ORPHA:567544
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Hypocalcemia, Stroke, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Isothenuria, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Arteriosclerosis, Severe Juvenile
Calcification of the aorta, Central retinal vessel vascular tortuosity, Arteriosclerosis, Central... OMIM:208060
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Nail dystrophy, Abnormal hair morphology, Hyperlipidemia, Alopecia ORPHA:90154
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Highly arched eyebrow, Decreased muscle mass, Nephrocalcinosis, Facial hypotonia ORPHA:500533
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... OMIM:220150
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Aortic tortuosity, Coarctation of aorta, Ascending a... OMIM:614823
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... OMIM:300554
Gaucher Disease, Type Iii
Vascular calcification OMIM:231000
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Glycosuria, Nephrocalcinosis, Proteinuria, Conjugated hyperbilirubinemia,... OMIM:613404
Juvenile Dermatomyositis
Calcinosis, Elevated circulating C-reactive protein concentration, Myositis, Vasculitis, Elevated... ORPHA:93672
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration, Hypocal... ORPHA:79443
Primary Hyperoxaluria
Optic atrophy, Hematuria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrolithiasis... ORPHA:416
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal in... OMIM:619468
Cockayne Syndrome Type 3
Premature graying of hair, Retinal atrophy, Cerebellar dentate nucleus calcification, Subcortical... ORPHA:90324
Osteoporosis-Pseudoglioma Syndrome
Retinal calcification, Vitreoretinopathy, Exudative retinopathy OMIM:259770
Hypophosphatasia, Infantile
Hypercalciuria, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Nephrocalcinosis, Hy... OMIM:241500
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Proteinuria, Ami... OMIM:616026
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Elbow flexion contracture, Hyperlipidemia, Sparse scalp hair, Camptodactyly, Flexion ... OMIM:248370
C3 Glomerulopathy
Acute kidney injury, Drusen, Hematuria, Yellow/white lesions of the retina, Central serous chorio... ORPHA:329918
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc... ORPHA:157215
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Nephrocalcinosis OMIM:617370
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Flexion contracture OMIM:617105
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Facial hypotonia OMIM:611087
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Renal tubular atrophy, Conjugated hyperbilirubinemia, R... OMIM:208085
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Stroke, Decreased serum creatinine, Proteinuria, Renal insufficiency ORPHA:54057
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Hyperuricemia, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Macr... ORPHA:79233
Pseudoxanthoma Elasticum
Vascular dilatation, Angioid streaks of the fundus, Cerebral calcification, Retinal hemorrhage, R... ORPHA:758
Homozygous Familial Hypercholesterolemia
Calcification of the aorta, Tendon xanthomatosis, Premature arteriosclerosis, Renal steatosis, Pr... ORPHA:391665
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... OMIM:615605
Alkaptonuria
Intervertebral disk calcification, Aortic aneurysm, Nephrolithiasis, Mitral valve calcification, ... ORPHA:56
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypocalcemia, Hypercalciuria, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Nephronophthisis 2
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cort... OMIM:602088
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis OMIM:613312
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Generalized aminoaciduria, Renal tubular acidosis, Hypercalciuria, Hyperpho... ORPHA:2088
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Type 2 muscle fiber predominance, Proxi... OMIM:619743
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c... OMIM:248250
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Oligosacchariduria, Dilatation of the cerebral a... ORPHA:365
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Autosomal Dominant Hypocalcemia
Optic atrophy, Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, ... ORPHA:428
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis cutis, Calcinosis OMIM:613471
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass... OMIM:601678
Cryoglobulinemia, Familial Mixed
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... OMIM:612926
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalciuria, Hyperphosphaturia, Hip contracture, Nephrocalcinosis, Hypercalcemia, Hypophosphat... OMIM:156400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Patent ductus arter... OMIM:615398
Cockayne Syndrome
Urinary incontinence, Cerebral calcification, Retinal atrophy, Cerebellar dentate nucleus calcifi... ORPHA:191
Rothmund-Thomson Syndrome
Calcinosis, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia totalis ORPHA:2909
Cystinosis, Nephropathic
Generalized aminoaciduria, Cerebral calcification, Retinopathy, Renal Fanconi syndrome, Hypophosp... OMIM:219800
Renal Tubular Acidosis, Proximal
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis OMIM:179830
Rothmund-Thomson Syndrome Type 1
Calcinosis, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia ... ORPHA:221008
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation OMIM:616733
Rothmund-Thomson Syndrome Type 2
Calcinosis, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia ... ORPHA:221016
Amelogenesis Imperfecta, Type Ig
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency OMIM:204690
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Variant Abeta2M Amyloidosis
Abnormal vascular morphology, Abnormal skeletal muscle morphology, Cardiovascular calcification, ... ORPHA:314652
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy... ORPHA:99880
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Hypospadias, Highly arched eyebrow, Medullary nephrocalcinosis, ... ORPHA:363528
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nail dystrophy, Nephrocalcinosis, Alopecia universalis, Perifoveal ring of hyperautofluorescence,... OMIM:240300
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Hypercalcemia, Hy... ORPHA:143
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuricemia, Tu... OMIM:174000
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... ORPHA:18
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hypokalemia, Hyperprostaglandinuria, Hypercalciuria, Imp... ORPHA:89938
Familial Tumoral Calcinosis
Calcification of muscles, Nephrocalcinosis ORPHA:53715
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst ORPHA:445038
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Joint contracture, Nephrocalcinosis, Hirsutism, Patent ductus arteriosus OMIM:618005
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hyperprostaglandinuria, Renal potass... OMIM:241200
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Aortic valve calcification OMIM:231005
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Polycystic kidney dysplasia, Multiple renal cysts, Elevated circulating alpha-fetopr... OMIM:613095
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Stroke, Transient ischemic attack, Increased blood urea nitrogen, Micr... OMIM:274150
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Coronary artery atherosclerosis, Stroke, Increased circulati... ORPHA:90041
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Rabson-Mendenhall Syndrome
Premature graying of hair, Hypokalemia, Long penis, Thick hair, Hirsutism, Retinopathy, Increased... ORPHA:769
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, El... OMIM:266900
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Coronary artery atherosclerosis, Hyperli... ORPHA:439232
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Tetralogy of Fallot, ... OMIM:617478
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricosuria, Nephrolithiasis, Hyperuricemia OMIM:300322
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Rod-cone dystrophy, Aminoaciduria, Brittle hair OMIM:616084
Pulmonary Alveolar Microlithiasis
Calcification of the aorta, Hematuria, Stippled calcification in carpal bones, Mitral valve calci... ORPHA:60025
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Antenatal intracerebral hemorrhage, Renal insufficiency, L... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Elevated circulating creatin... OMIM:614376
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration, Stage 3 chronic kidney disease OMIM:620366
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Hyperc... ORPHA:369837
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Renal artery stenosis, Functional abnormality of the bladder, Renovascular hypertension, Dilatati... ORPHA:391487
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Glomerular... OMIM:276700
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Preeclampsia
Acute kidney injury, Proteinuria, Chronic kidney disease, Elevated circulating creatinine concent... ORPHA:275555
Proximal Renal Tubular Acidosis
Bicarbonaturia, Low-molecular-weight proteinuria, Global proximal tubulopathy, Hypokalemia, Hyper... ORPHA:47159
Enamel-Renal Syndrome
Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure... ORPHA:1031
Alport Syndrome
Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial fibrosis, Stage 5 chron... ORPHA:63
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... OMIM:620138
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Oligomeganephronia
Decreased glomerular filtration rate, Unilateral renal agenesis, Abnormal medullary pyramid morph... ORPHA:2260
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Patent ductus arteriosus OMIM:608104
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Coarctation of aorta, Ascending aortic dissection, Aortic valve calcificati... ORPHA:402075
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypokalemia, Renal insufficiency, Hy... ORPHA:534
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Elevated urine mesaconic acid level, E... OMIM:618156
Relapsing Fever
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ... ORPHA:91547
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... OMIM:235400
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Large vessel vasculitis, Renal tubular epithelial necrosis, Hematuria, Eleva... ORPHA:49041
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Decreased glomerular filtration rate, Arteritis, Gl... ORPHA:93126
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hypokalemia, Renal phosphate wasting, Hypocalcemia, Hypouricemi... ORPHA:411634
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Decreased circulat... ORPHA:85450
Trisomy 8P
Multiple joint contractures, Low posterior hairline, Nephrocalcinosis, Tetralogy of Fallot, Hydro... ORPHA:264450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Enlarged kidney, Hyperuricemia, Tubulointerstitial fibrosis, Hyperlipidemia... ORPHA:79259
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Williams Syndrome
Abnormal circulating lipid concentration, Abnormal carotid artery morphology, Hypoplasia of penis... ORPHA:904
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Elevated urine trihydroxyc... OMIM:266510
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Vesicoureteral reflux, Diastasis recti, Nephrolithiasis, N... OMIM:130650
Aicardi-Goutières Syndrome
Calcification of the aorta, Moyamoya phenomenon, Aortic aneurysm, Myositis, Cerebral calcificatio... ORPHA:51
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circulating creatinin... OMIM:154230
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration, Decreased urine output, Acute ... ORPHA:542323
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Cerebral calcification, Punctate vasculitis skin lesions, Proteinuria, Elev... ORPHA:247691
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Myocardial necrosis OMIM:260400
Arthrogryposis Multiplex Congenita 5
Elbow flexion contracture, Medullary nephrocalcinosis, Camptodactyly, Flexion contracture, Arthro... OMIM:618947
Robinow Syndrome, Autosomal Recessive 1
Hypospadias, Nephrolithiasis, Camptodactyly, Long eyelashes, Hydronephrosis, Renal duplication, N... OMIM:268310
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Synophrys, Nephrocalcinosis, Patent ductus arteriosus, Renal dysplasia OMIM:300990
Leprechaunism
Enlarged kidney, Hypokalemia, Long penis, Hypercalciuria, Increased circulating renin level, Neph... ORPHA:508
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary incontinence, Hypotr... OMIM:618885
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Williams-Beuren Syndrome
Premature graying of hair, Abnormal renal morphology, Nephrocalcinosis, Urethral stenosis, Medial... OMIM:194050
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Polycystic kidney dysplasia OMIM:608776
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Coarctation of aorta, Nephr... ORPHA:2044
Familial Mediterranean Fever
Vasculitis, Nephrotic syndrome, Nephrocalcinosis, Proteinuria, Nephropathy ORPHA:342
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... OMIM:223900
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Generalized hypertrichosis, Hirsutism, Low posterior hairline... OMIM:136140
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Urethritis, Hematuria, Arteritis, Elevated circulating C-re... ORPHA:449395
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Reduced haptoglobin level, Hemolytic-uremic syndrome, Proteinuria, Moderate proteinuria, Elevated... OMIM:301110
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Hyperuricemia, Nephrolithiasis, Renal cyst, Glycosuria, D... OMIM:137920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Calcification of the aorta, Mitral valve calcification, Papilledema, Aortic valve calcification, ... ORPHA:2072
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia, Steatorrhea OMIM:607765
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated urinary dopamine level, Elevated circulating creatinine c... ORPHA:230
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Micropenis OMIM:618810
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circu... ORPHA:36234
Cutis Laxa, Autosomal Recessive, Type Iic
Camptodactyly, Nephrocalcinosis, Knee flexion contracture, Micropenis, Prominent superficial veins OMIM:617402
Tangier Disease
Hypertriglyceridemia, Coronary artery stenosis, Accelerated atherosclerosis, Carotid artery steno... ORPHA:31150
Multiple Myeloma
Acute kidney injury, Nephrotic syndrome, Hypercalcemia, Hyperproteinemia, Elevated circulating cr... ORPHA:29073
Doors Syndrome
Optic atrophy, Hydronephrosis, Nephrocalcinosis, Increased urine alpha-ketoglutarate concentratio... ORPHA:79500
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... ORPHA:340
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Stroke-like episode, Proteinur... OMIM:212065
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatremia, Hemoglob... ORPHA:90038
Sarcoidosis
Hypercalciuria, Facial palsy, Nephrolithiasis, Nephrocalcinosis, Hypercalcemia, Renal insufficien... ORPHA:797
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Dec... ORPHA:96180
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Myocardial calcification, Myocardial fibrosis OMIM:234700
Biliary, Renal, Neurologic, And Skeletal Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Hyperbilirubinemia, Right aortic arch, Medul... OMIM:619534
Sickle Cell Anemia
Ischemic stroke, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Alg12-Cdg
Hypospadias, Hyponatremia, Patent ductus arteriosus, Hypoalbuminemia, Hypocholesterolemia, Microp... ORPHA:79324
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Elevated circulating C-r... ORPHA:91500
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hyperbilirubinemia, Ab... ORPHA:14
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Dubowitz Syndrome
Hypocholesterolemia, Iris coloboma, Hypospadias, Hypoplasia of the iris OMIM:223370
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Coarctation of aorta OMIM:244450
Pseudoxanthoma Elasticum
Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Coronary arte... OMIM:264800
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Epiphyseal stippling, Renal cyst... OMIM:270400
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Singleton-Merten Syndrome 1
High anterior hairline, Aortic arch calcification, Mitral valve calcification, Tendon rupture, Mu... OMIM:182250
Yellow Fever
Acute kidney injury, Hyperbilirubinemia, Anuria, Elevated circulating creatine kinase concentrati... 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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