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Gene: Cyp24a1 MGI:88593

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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:
cytochrome P450, family 24, subfamily a, polypeptide 1
Synonyms:
CP24,  Cyp24,  25-hydroxyvitamin D-24-hydroxylase,  24-OHase

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 Cyp24a1 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 associated to Cyp24a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880

The table below shows human diseases predicted to be associated to Cyp24a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos... ORPHA:99879
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... OMIM:613388
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Blue Diaper Syndrome
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hyperparathyroidism 4
Osteopenia, Nephrolithiasis, Hypercalcemia OMIM:617343
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... OMIM:300555
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss... OMIM:300009
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst ORPHA:2668
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Hypercalciuria, Micropenis OMIM:614732
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed... OMIM:300554
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Dent Disease
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... ORPHA:1652
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration,... ORPHA:157215
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria OMIM:145980
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia ORPHA:284400
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Hyp... OMIM:241500
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed... OMIM:241530
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Osteomalacia, Increased urinary potassium, Chroni... ORPHA:3337
Fanconi-Bickel Syndrome
Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Rickets, Hypercalciuria, Generalized aminoac... ORPHA:2088
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula... OMIM:600740
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in... ORPHA:405
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating... OMIM:179800
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Hypouricemia, Osteomalacia, Proteinuria, Rickets, Hypercalciuria, G... OMIM:227810
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Knee flexion contr... OMIM:156400
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... OMIM:145981
Hypomagnesemia 2, Renal
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia OMIM:154020
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal sa... OMIM:601678
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Increased ... ORPHA:18
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Hypercalciuria, Amin... OMIM:239200
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... OMIM:239000
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... OMIM:145001
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia ORPHA:2123
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... ORPHA:73224
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Non-Functioning Paraganglioma
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... ORPHA:94080
Autosomal Dominant Hypocalcemia
Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, ... ORPHA:428
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Oculoskeletodental Syndrome
Renal agenesis, Hypercalcemia, Elbow flexion contracture, Hypercalciuria, Mucopolysacchariduria, ... OMIM:618440
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia ORPHA:35710
Rhabdoid Tumor
Hematuria, Renal neoplasm, Hypercalcemia ORPHA:69077
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr... ORPHA:251274
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... ORPHA:284426
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, R... ORPHA:47159
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc... OMIM:241200
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio... ORPHA:251004
Infantile Myofibromatosis
Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis ORPHA:2591
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria, Renal cyst, Nephrocalci... OMIM:615398
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Hypophosphatasia
Hypercalcemia, Recurrent fractures, Craniosynostosis ORPHA:436
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Increased circulating cortisol level, Hypercalcemia ORPHA:97289
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia ORPHA:89937
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos... ORPHA:416
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171420
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re... OMIM:612780
Oculoskeletodental Syndrome
Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Wilson Disease
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia,... OMIM:277900
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Incre... OMIM:610600
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:276621
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
East Syndrome
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... ORPHA:199343
2P21 Microdeletion Syndrome
Nephrolithiasis, Hypocalcemia, Cystinuria ORPHA:163693
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... ORPHA:94090
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Hypercalciuria, Renal cyst, Ne... ORPHA:369837
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Hypercalcemia, Renal hamartoma, Osteoporosis, Nephrolithiasis, Renal cyst, H... ORPHA:99880
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Parathyroid Carcinoma
Renal insufficiency, Hypercalcemia, Renal hamartoma, Osteoporosis, Nephrolithiasis, Renal cyst, H... ORPHA:143
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Nephrolithiasis, Hypocalcemia, Hypophos... ORPHA:93160
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu... OMIM:615605
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo... ORPHA:249
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Multiple Myeloma
Osteopenia, Hypercalcemia, Nephropathy, Elevated circulating creatinine concentration, Abnormalit... ORPHA:29073
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... ORPHA:29072
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocal... ORPHA:36913
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... OMIM:613090
Juvenile Nephropathic Cystinosis
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... ORPHA:411634
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Hypercalcemia, Renal sal... ORPHA:95409
Helix Syndrome
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria OMIM:617671
Pheochromocytoma
Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level OMIM:171300
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Renal salt wasting OMIM:201710
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Oncogenic Osteomalacia
Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p... ORPHA:352540
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomerulopathy,... ORPHA:534
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... OMIM:300539
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Renal salt wasting OMIM:264350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse ... OMIM:264700
Addison Disease
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Renal salt wasting, Decreased ... ORPHA:85138
Gitelman Syndrome
Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo... OMIM:263800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administrat... OMIM:612462
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... ORPHA:320
Multiple Endocrine Neoplasia Type 2
Joint laxity, Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrin... ORPHA:653
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Hypouricemia, Rickets, Nephrocalcinosis, Glycosuria, Aminoaciduri... OMIM:616026
Late-Onset Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Hyperuricemia, G... ORPHA:199299
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Increased susc... ORPHA:289157
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Hypotonia-Cystinuria Syndrome
Nephrolithiasis, Cystine crystalluria, Hypocalcemia, Cystinuria OMIM:606407
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting OMIM:203400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Renal salt wasting OMIM:614736
Pearson Marrow-Pancreas Syndrome
Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype... OMIM:557000
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia ORPHA:476126
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Renal phosphat... OMIM:307800
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypokalemia, Decreased urinary potassium OMIM:611489
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoacidu... OMIM:617913
Familial Isolated Hypoparathyroidism
Nephropathy, Hypocalcemia ORPHA:2238
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat... OMIM:259700
Monosomy 13Q34
Fetal pyelectasis, Hypercalcemia ORPHA:96168
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Renal salt wasting OMIM:613743
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures OMIM:241410
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Osteolysis, Nephrolithiasis, Increased susceptibility to fractures, Reduced bone m... ORPHA:652
Kenny-Caffey Syndrome, Type 1
Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia OMIM:244460
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Nephrocalcinosis, Renal dysplasia, Hypercalciuria, Joint hypermobility OMIM:300990
Leprechaunism
Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperaldosteronism, Increased circulat... ORPHA:508
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture... ORPHA:666
Refractory Celiac Disease
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Williams Syndrome
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tub... ORPHA:904
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Renal insufficiency, Recurrent urinary tract infections, Hypercalcemia,... OMIM:194050
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypocalcemia ORPHA:1563
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... ORPHA:289176
Familial Hypoaldosteronism
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... ORPHA:427
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... ORPHA:31824
Gracile Bone Dysplasia
Micropenis, Decreased skull ossification, Hypocalcemia OMIM:602361
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Arthrit... ORPHA:247353
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Low urinary cyclic AMP response to PT... OMIM:103580
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Renal salt wasting OMIM:201910
Cholera
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:173
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic A... ORPHA:79444
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Hypercalcemia ORPHA:913
Sanjad-Sakati Syndrome
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... OMIM:618183
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting OMIM:300200
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Renal angiomyolipoma, Increased circulating cortisol level, Hyp... ORPHA:276152
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia OMIM:131100
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol... ORPHA:411629
Beckwith-Wiedemann Syndrome
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype... ORPHA:116
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... OMIM:618476
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... ORPHA:94093
Mccune-Albright Syndrome
Hyperphosphaturia, Recurrent fractures, Osteomalacia, Primary hypercortisolism, Fibrous dysplasia... ORPHA:562
Sarcoidosis
Renal insufficiency, Hypercalcemia, Bone cyst, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis,... ORPHA:797
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Increased cir... ORPHA:231625
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Gout, Tubulointe... ORPHA:358
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... ORPHA:79443
X-Linked Agammaglobulinemia
Arthritis, Osteomyelitis, Hypocalcemia ORPHA:47
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Increased urinary potassium, ... ORPHA:231580
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Osteomyelitis, Recurrent urinary tract infections, Elevated circulating crea... ORPHA:36234
Sarcoidosis, Susceptibility To, 1
Arthritis, Bone cyst, Hypercalciuria OMIM:181000
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... ORPHA:84081
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ... ORPHA:2237
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Stillbirth, Decreased osteoclast count, Ost... OMIM:259720
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Osteoporosis, Hyperkalemi... ORPHA:168558
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Renal sal... ORPHA:361
Cystic Fibrosis
Hypercalciuria, Steatorrhea OMIM:219700
Somatostatinoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97283
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Osteoporosis, Hyperkalemi... ORPHA:289548
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Vipoma
Increased circulating cortisol level, Hypokalemia, Hypercalcemia ORPHA:97282
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Ppoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97278
Ethylene Glycol Poisoning
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Celiac Disease, Susceptibility To, 1
Osteoporosis, Hypocalcemia, Steatorrhea, Rickets OMIM:212750
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hyperphosphaturia, Recurrent fractures, Horseshoe kidney, Hypophosphatemic rickets OMIM:163200
Glucagonoma
Increased circulating cortisol level, Hypercalcemia, Steatorrhea ORPHA:97280
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Congenital Disorder Of Glycosylation, Type Ig
Micropenis, Hypospadias, Hypocalcemia OMIM:607143
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia OMIM:235255
Grfoma
Increased circulating cortisol level, Hypercalcemia ORPHA:97261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Osteomyelitis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Nephrotic syndrome... ORPHA:37042
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Hyperkalemia... ORPHA:90791
Timothy Syndrome
Hypocalcemia OMIM:601005
Sotos Syndrome
Joint laxity, Hip contracture, Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalce... ORPHA:821
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Long penis, Hypokalemia, Increased urin... ORPHA:90795
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis ORPHA:1655
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Pearson Syndrome
Renal insufficiency, Proteinuria, Lacticaciduria, Steatorrhea, Hypophosphatemia, Renal cyst, Glyc... ORPHA:699
Cranioectodermal Dysplasia 1
Joint laxity, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidney disease, Osteopo... OMIM:218330
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Elevated circulating creatine kinase concentration, Proximal renal tubular a... ORPHA:2785
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Joint hyperflexibility, Mucopolysacchariduria, Hypocalcemia, Abnor... ORPHA:175
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Camptodactyly of finger, Osteomalac... OMIM:309000
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium co... ORPHA:275761
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Septic arthritis, Acute kidney injury... ORPHA:544482
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Hypocalciuria, Joint laxity, Hypophosphaturia ORPHA:73223
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... ORPHA:436271
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Recurrent urinary tract infections, Rickets, Reduced bone mineral densi... OMIM:613658
Gaisböck Syndrome
Hypertriglyceridemia, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circula... ORPHA:90041
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropeni... ORPHA:163979
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Horseshoe kidney, Hypocalcemia ORPHA:2136
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,... ORPHA:667
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... OMIM:243910
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Liver Disease, Severe Congenital
Joint laxity, Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating... OMIM:619991
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Multiple suture craniosynostosis, Joint hyperflexibility, Arthriti... ORPHA:567
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku... ORPHA:93325
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Long penis, Hyperkalemia,... ORPHA:90794
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Isotretinoin-Like Syndrome
Hypocalcemia ORPHA:2306
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Unilateral renal agenesis... OMIM:619503
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Hypocalcemia, Hydronephrosis OMIM:620330
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Hydronephrosis OMIM:188400
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Recurrent urinary tract infections ORPHA:83471
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hypocalcemia, Micropenis, Hydronephrosis OMIM:214800
Johanson-Blizzard Syndrome
Joint laxity, Hypospadias, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Conj... OMIM:243800
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Osteomalacia, Abnormal calcification of the carpal bones, Nephrocalcinosis, Fu... ORPHA:51608

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 Cyp24a1

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 Cyp24a1.

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

Title Journal IMPC Allele PubMed ID
Mammary-specific ablation of Cyp24a1 inhibits development, reduces proliferation and increases sensitivity to vitamin D. The Journal of steroid biochemistry and molecular biology (January 2019) Cyp24a1tm1c(KOMP)Wtsi Cyp24a1tm1a(KOMP)Wtsi Cyp24a1tm1d(KOMP)Wtsi 30654105

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cyp24a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cyp24a1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cyp24a1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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