banner
Genes Phenotypes Help, News, Blog

Gene: Cyp24a1 MGI:88593

Log in to follow
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, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... 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, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteoporosis, Renal calcium wasting ORPHA:2197
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ... OMIM:616963
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat... OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalciuria, Generalized osteoporosis, Hyperphosphaturia, Nephrocalcinosis, Hyperc... ORPHA:99879
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Decreased glomerular filtration rate, Renal phosphate wasting, Generalized a... OMIM:613388
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Hyperparathyroidism 4
Osteopenia, Hypercalcemia, Nephrolithiasis OMIM:617343
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis OMIM:239199
Dent Disease 1
Low-molecular-weight proteinuria, Rickets, Renal phosphate wasting, Delayed epiphyseal ossificati... OMIM:300009
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Bone cyst, Hypercalcemia, Proteinuria, Renal insufficiency ORPHA:2668
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia, Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis OMIM:602722
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis, Hypercal... OMIM:143880
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypospadias, Hypercalciuria, Hypercalcemia, Craniosynostosis, Micropenis OMIM:614732
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Del... OMIM:300554
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rick... ORPHA:1652
Renal Tubular Acidosis, Proximal
Rickets, Hypercalciuria, Proximal renal tubular acidosis, Osteomalacia, Elevated circulating crea... OMIM:179830
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Increased circulating beta-C-terminal tel... ORPHA:157215
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia OMIM:145980
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Hypophosphatasia, Infantile
Stillbirth, Unossified vertebral bodies, Hypercalciuria, Elevated plasma pyrophosphate, Elevated ... OMIM:241500
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Delayed epiphyseal ossification, Hype... OMIM:241530
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Hypertriglyceridemia, Generalized aminoaciduria, Renal tubular acidosis, Hyp... ORPHA:2088
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:600740
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypomagnesiuria, Hypocalciuria, Reduced ratio of renal ca... ORPHA:405
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfun... OMIM:227810
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Osteomalacia, Impaired urinary acidification, Nephrolithiasis, Nephroc... OMIM:179800
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Hypophosph... OMIM:612287
Blue Diaper Syndrome
Blue urine, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalciuria, Hyperphosphaturia, Hip contracture, Nephrocalcinosis, Hypercalcemia, ... OMIM:156400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:145981
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... OMIM:248250
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Rickets, Reduced bone mineral density, Hypocitraturia, Decrease... ORPHA:18
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
Bartter Syndrome, Type 1, Antenatal
Renal salt wasting, Polyuria, Osteopenia, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, ... OMIM:601678
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hypercalciuria, Recurrent fractures, Hyperphosphaturia, Hypercalcemia, Hypo... OMIM:239200
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased bone mineral density, Inc... OMIM:239000
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia OMIM:612089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Polyuria, Calvarial osteosclerosis, Nephrolithiasis, Metacarpal periosteal thickening... OMIM:617994
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:2123
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Subperiosteal bone formation, Hyperos... OMIM:211900
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Hypercalcemia, Hydroxyprolinuria, Sclero... OMIM:602080
Oculoskeletodental Syndrome
Hypercalciuria, Hypocalcemia, Elbow flexion contracture, Mucopolysacchariduria, Renal agenesis, H... OMIM:618440
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Elevated ur... ORPHA:94080
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, H... ORPHA:428
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp... ORPHA:89938
Rhabdoid Tumor
Hypercalcemia, Renal neoplasm, Hematuria ORPHA:69077
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... ORPHA:284426
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Hypercalcemia, Renal insufficiency ORPHA:35710
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner... ORPHA:47159
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuria, Proteinuria... ORPHA:251004
Bartter Syndrome, Type 2, Antenatal
Renal salt wasting, Polyuria, Osteopenia, Hyperchloriduria, Hyperprostaglandinuria, Hypokalemia, ... OMIM:241200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Lambdoidal craniosynostosis, Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenos... OMIM:615398
Infantile Myofibromatosis
Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Hypercalcemia, Osteolysis ORPHA:2591
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Fanconi Renotubular Syndrome 1
Low-molecular-weight proteinuria, Rickets, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hy... OMIM:134600
Hypophosphatasia
Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Osteomalacia ORPHA:89937
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia, Osteomalacia OMIM:193100
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Nephrocalcin... ORPHA:416
Oculoskeletodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr... OMIM:612780
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating corticosterone level, Increased circulati... OMIM:610600
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:276621
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hypocalcemic seizures, Hyperphosphatemia, Nephrocalcinosis OMIM:146200
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Hyp... ORPHA:199343
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Cystinuria ORPHA:163693
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Osteoporosis, Nephrocalcinosis, Hyp... ORPHA:99880
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Congenital megaureter, Joint hypermobility, Hypercalciuria, Ren... ORPHA:369837
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration OMIM:615883
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Rickets, Glycosuria, Hyperphosphaturia, Elevated circulating cr... OMIM:615605
Parathyroid Carcinoma
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Osteoporosis, Nephrocalcinosis, Hyp... ORPHA:143
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Bone cyst, Abnormal bone structure, Nephrolithiasis, Coarse metaphyseal trabeculari... ORPHA:93160
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Wilson Disease
Increased urinary copper concentration, Decreased circulating ceruloplasmin concentration, Hyperc... OMIM:277900
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... ORPHA:29072
Fibrous Dysplasia Of Bone
Rickets, Increased circulating cortisol level, Osteomalacia, Abnormal bone structure, Cortical ir... ORPHA:249
Pseudohypoparathyroidism Type 1B
Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Diaphyseal sclerosi... ORPHA:94089
Multiple Myeloma
Osteopenia, Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, H... ORPHA:29073
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Calcium nephrolithiasis, Hyp... ORPHA:36913
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Juvenile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... ORPHA:411634
Acute Adrenal Insufficiency
Renal salt wasting, Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia,... ORPHA:95409
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency OMIM:617671
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort... ORPHA:93324
Pheochromocytoma
Elevated urinary norepinephrine level, Hypercalcemia, Renal artery stenosis, Proteinuria OMIM:171300
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Hypospadias OMIM:201710
Spinal Cord Injury
Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction ORPHA:90058
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Oncogenic Osteomalacia
Renal phosphate wasting, Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Pathologic fracture, ... ORPHA:352540
Oculocerebrorenal Syndrome Of Lowe
Joint stiffness, Nephrocalcinosis, Multiple renal cysts, Hyperaldosteronism, Hypophosphatemia, Jo... ORPHA:534
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism OMIM:619406
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc... OMIM:264700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... OMIM:174000
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification OMIM:618618
Gitelman Syndrome
Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increased circulating re... OMIM:263800
Pseudohypoparathyroidism, Type Ic
Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Osteoporosis, Hypocalcemic t... OMIM:612462
Addison Disease
Renal salt wasting, Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Increased cir... ORPHA:85138
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyponatremia, Hyperkalemia, Hyperaldosteronism OMIM:264350
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypophosphat... OMIM:616026
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele... ORPHA:653
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia OMIM:612526
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Renal phosphate wasting, Hypocalci... ORPHA:89936
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Hypocalcemia, Hypophosphatemia, Sparse bone trabeculae,... OMIM:600081
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystine crystalluria, Nephrolithiasis, Cystinuria OMIM:606407
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Albers-Schönberg Osteopetrosis
Hypocalcemia, Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibu... ORPHA:53
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hyperuricemia, Hyponatremia, Decreased circulating cortisol le... ORPHA:199299
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hyperec... OMIM:613845
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyponatremia, Hyperkalemia, Decreased circulating cortisol level OMIM:614736
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hypercalciuria, Hyperbilirubinemia, 3-Methylglutaric aciduria, Complex organic acidu... OMIM:557000
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Nephrocalcinosis, Abnormality of circulating cort... ORPHA:320
Corticosteroid-Binding Globulin Deficiency
Reduced circulating cortisol-binding globulin concentration, Decreased urinary potassium, Decreas... OMIM:611489
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Enamel-Renal Syndrome
Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure... ORPHA:1031
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hypocalcemic seizures, Generalized aminoaciduria, Delayed epiphyseal ossification, Hypoc... ORPHA:289157
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia ORPHA:476126
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hypon... OMIM:617913
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Hypocalc... OMIM:259700
Familial Isolated Hypoparathyroidism
Hypocalcemia, Nephropathy ORPHA:2238
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Monosomy 13Q34
Hypercalcemia, Fetal pyelectasis ORPHA:96168
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Hyperaldosteronism OMIM:613743
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Micropenis OMIM:241410
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Medullary nephrocalcinosis OMIM:613312
Osteogenesis Imperfecta
Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Hypercalciuria, Frac... ORPHA:666
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Hypercalciuria, Nephrolithiasis, Hypercalcemia, Increased circulati... ORPHA:652
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Calvarial osteosclerosis, Decreased skull ossification OMIM:244460
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Renal phosphate wasting, Osteoarthritis, Hypophosphatemia, Abn... OMIM:307800
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Leprechaunism
Enlarged kidney, Hypokalemia, Long penis, Hypercalciuria, Increased circulating renin level, Neph... ORPHA:508
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Joint hypermobility, Nephrocalcinosis, Renal dysplasia OMIM:300990
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Decreased HDL cholesterol concentration, Decreased glomerula... ORPHA:85450
Williams Syndrome
Abnormal circulating lipid concentration, Hypoplasia of penis, Joint stiffness, Nephrocalcinosis,... ORPHA:904
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Nephropathy, Renal insufficiency ORPHA:1563
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Proximal renal... ORPHA:427
Colchicine Poisoning
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoph... ORPHA:31824
Williams-Beuren Syndrome
Osteopenia, Renal insufficiency, Hypercalciuria, Pelvic kidney, Abnormal renal morphology, Vesico... OMIM:194050
Gracile Bone Dysplasia
Hypocalcemia, Micropenis, Decreased skull ossification OMIM:602361
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Renal phosphate wasting, ... ORPHA:289176
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Hyponatremia, Hyp... ORPHA:247353
Ring Chromosome 10 Syndrome
Hypocalcemia, Renal hypoplasia/aplasia ORPHA:1438
Pseudohypoparathyroidism, Type Ia
Low urinary cyclic AMP response to PTH administration, Subcutaneous ossification, Osteoporosis, H... OMIM:103580
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Polyuria, Hypocalcemia, Hyponatremia, Hypomagnesemia, Renal dysplasia, Hypo... OMIM:618183
Cholera
Acute kidney injury, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormality of renal excretion, Abn... ORPHA:173
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia, Increased circulating cortisol level ORPHA:913
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Pseudohypoparathyroidism Type 1C
Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Increas... ORPHA:79444
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis, Hypoplasia of penis ORPHA:2323
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Hypercalcemia, Renal angiomyolipoma, Increased circulating cort... ORPHA:276152
Adrenal Hypoplasia, Congenital
Renal salt wasting, Hyponatremia, Decreased circulating cortisol level OMIM:300200
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Rickets, Hypokalemia, Glycosuria, Hyperphosphaturia, Hypophosph... ORPHA:411629
Sarcoidosis
Hypercalciuria, Bone cyst, Nephrolithiasis, Nephrocalcinosis, Hypercalcemia, Renal insufficiency,... ORPHA:797
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Congenital megaureter, Hypercalciuria, Vesicoureteral refl... ORPHA:116
Mccune-Albright Syndrome
Renal phosphate wasting, Aneurysmal bone cyst, Increased circulating cortisol level, Polyostotic ... ORPHA:562
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Craniofacial ost... OMIM:618476
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231625
Gitelman Syndrome
Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Renal potassium wasti... ORPHA:358
X-Linked Agammaglobulinemia
Hypocalcemia, Arthritis, Osteomyelitis ORPHA:47
Cystic Fibrosis
Hypercalciuria, Steatorrhea OMIM:219700
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Increased urinary potassium, Hypokalemia, Glucocortocoid-insen... ORPHA:231580
Sarcoidosis, Susceptibility To, 1
Hypercalciuria, Bone cyst, Arthritis OMIM:181000
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Recurrent urinary tract infections, Arthritis, Elevated circulating creatine kinase... ORPHA:36234
Pseudohypoparathyroidism Type 1A
Calcinosis, Reduced bone mineral density, Low urinary cyclic AMP response to PTH administration, ... ORPHA:79443
Familial Glucocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Recurrent urinary tract infections, Hyponatremia, Hypernatriuri... ORPHA:361
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Senior-Boichis Syndrome
Tubular luminal dilatation, Renal atrophy, Abnormal renal insterstitial morphology, Increased tot... ORPHA:84081
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened cortex of lon... OMIM:127000
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Stillbirth, Increased bone mineral density, Hypocalcemia, Hy... OMIM:259720
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Reduced bone mineral density, Urogenital sinus anomaly, Abnorma... ORPHA:168558
Vipoma
Hypercalcemia, Hypokalemia, Increased circulating cortisol level ORPHA:97282
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Reduced bone mineral density, Urogenital sinus anomaly, Abnorma... ORPHA:289548
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Somatostatinoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97283
Ppoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97278
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Hypocalcemia,... ORPHA:31826
Celiac Disease, Susceptibility To, 1
Rickets, Steatorrhea, Hypocalcemia, Osteoporosis OMIM:212750
Cystinosis, Nephropathic
Generalized aminoaciduria, Hypophosphatemia, Stage 5 chronic kidney disease, Rickets, Reduced blo... OMIM:219800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Tubulointerstitial nephritis, Nephr... ORPHA:37042
Glucagonoma
Steatorrhea, Hypercalcemia, Increased circulating cortisol level ORPHA:97280
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Hyperphosphaturia, Horseshoe kidney OMIM:163200
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Micropenis, Hypospadias OMIM:607143
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Hydronephrosis, Micropenis OMIM:235255
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Renal salt wasting, Hyperkalemia, Penoscrotal hypospadias, Hypospadias, Increased circulating ren... ORPHA:90791
Grfoma
Hypercalcemia, Increased circulating cortisol level ORPHA:97261
Timothy Syndrome
Hypocalcemia OMIM:601005
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Sotos Syndrome
Abnormality of the kidney, Ankle flexion contracture, Ureteral duplication, Hypospadias, Bilatera... ORPHA:821
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Abnormal renal morphology, Hypoproteinemia, Hydronephrosis, Micropenis ORPHA:1655
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Renal salt wasting, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Long penis, Decr... ORPHA:90795
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Pearson Syndrome
Steatorrhea, Hypokalemia, Hypocalcemia, Hyperalaninemia, Renal cyst, Glycosuria, Hypomagnesemia, ... ORPHA:699
Cartilage-Hair Hypoplasia
Limited elbow extension, Abnormal bone ossification, Hypocalcemia, Abnormally ossified vertebrae,... ORPHA:175
Cranioectodermal Dysplasia 1
Hypocalcemia, Stage 1 chronic kidney disease, Osteoporosis, Chronic kidney disease, Joint hypermo... OMIM:218330
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Hyponatremi... ORPHA:544482
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Xanthelasma, Hypertriglyceridemia, Steatorrhea, Hyperkalemia, Hyponatremia, H... ORPHA:275761
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Joint hypermobility, Hypophosphaturia, Osteopenia, Hypocalciuria ORPHA:73223
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Elevated circulating creati... ORPHA:2785
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Rickets, Hypercholesterolemia, Pathologic fract... OMIM:309000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... ORPHA:436271
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Hypocalcemia, Recurrent urinary tract infectio... OMIM:613658
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Hyperuricemia, Increased circulating renin level, Hyperna... ORPHA:90041
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hypocalcemia, Hyperextensibility of the finger joints, Hyperbilirubinemia, Hydroneph... ORPHA:163979
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Hyperphosphaturia, Proteinuria, Aminoaciduria, Renal Fanconi syndrome, Renal tubular ... OMIM:220110
Hennekam Syndrome
Ectopic kidney, Hypocalcemia, Camptodactyly of finger, Craniosynostosis, Horseshoe kidney ORPHA:2136
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Decreased urinary potassium, Episodic hypokalemia, Hypo... ORPHA:79102
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,... OMIM:229600
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hypocalcemia, Hypophosphatemia, Craniosynostosis, Re... ORPHA:667
Craniofacioskeletal Syndrome
Hypocalcemia, Hydronephrosis, Hypospadias OMIM:300712
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati... ORPHA:466650
Liver Disease, Severe Congenital
Hypospadias, Hypocalcemia, Recurrent urinary tract infections, Hyperbilirubinemia, Alpha-aminobut... OMIM:619991
22Q11.2 Deletion Syndrome
Hypospadias, Hypocalcemia, Polycystic kidney dysplasia, Arthritis, Vesicoureteral reflux, Multipl... ORPHA:567
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Calvarial osteosclerosis, Decreased skull ossification, Cortical thickenin... ORPHA:93325
Opsismodysplasia
Hypophosphatemia, Renal phosphate wasting OMIM:258480
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hyperkalemia, Long penis, Elevated urinary epinephrine level, Urogenital sinu... ORPHA:90794
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Hypocalcemia, Pelvic kidney, Hyperextensibility of the finger joints, ... OMIM:619503
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint hypermobility, Hydronephrosis, Hypocalcemia OMIM:620330
Digeorge Syndrome
Unilateral renal agenesis, Hypocalcemia, Hydronephrosis, Renal dysplasia, Renal insufficiency OMIM:188400
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Hypocalcemic tetany ORPHA:83471
Charge Syndrome
Hypocalcemia, Renal agenesis, Renal hypoplasia, Hydronephrosis, Micropenis, Horseshoe kidney OMIM:214800
Johanson-Blizzard Syndrome
Hypospadias, Hypocalcemia, Increased VLDL cholesterol concentration, Urethrovaginal fistula, Hydr... OMIM:243800
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, M... 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter