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Gene: Calcoco1 MGI:1914738

Gene Summary

Name:

calcium binding and coiled coil domain 1

Synonyms:

1810009B06Rik, CoCoA, Gcap11

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating total protein level	Calcoco1^em1(IMPC)H	HOM	Early adult	2.25×10^-07
enlarged urinary bladder	Calcoco1^em1(IMPC)H	HOM	Late adult	0.00
decreased circulating phosphate level	Calcoco1^em1(IMPC)H	HOM	Early adult	3.03×10^-05
abnormal retina morphology	Calcoco1^em1(IMPC)H	HOM	Late adult	3.01×10^-21
abnormal startle reflex	Calcoco1^em1(IMPC)H	HOM	Late adult	8.46×10^-06
enlarged kidney	Calcoco1^em1(IMPC)H	HOM	Late adult	0.00
abnormal locomotor behavior	Calcoco1^em1(IMPC)H	HOM	Early adult	7.46×10^-05

Download data as: TSV XLS

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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 Calcoco1 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.

Human diseases associated with Calcoco1 (0 diseases)
Human diseases predicted to be associated with Calcoco1 (205 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Calcoco1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Trypsinogen Deficiency	Hypoproteinemia	OMIM:614044
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Congenital Megacalycosis	Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri...	ORPHA:93109
Hypophosphatemia, Renal, With Intracerebral Calcifications	Renal hypophosphatemia	OMIM:241519
Immunodeficiency 43	Hypoproteinemia, Hypoalbuminemia	OMIM:241600
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Retinoschisis, Autosomal Dominant	Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation	OMIM:180270
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Immunodeficiency, Common Variable, 6	Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ...	OMIM:613496
Stargardt Disease 1	Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa	OMIM:248200
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoproteinemia, Hypoalbuminemia	OMIM:600351
Senior-Loken Syndrome 7	Nephronophthisis, Retinal degeneration	OMIM:613615
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94090
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Nephronophthisis 16	Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney	OMIM:615382
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Retinoschisis 1, X-Linked, Juvenile	Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d...	OMIM:312700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Refractory Celiac Disease	Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia	ORPHA:398063
Exudative Vitreoretinopathy 3	Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold	OMIM:605750
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia	OMIM:256300
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas...	OMIM:267700
Aa Amyloidosis	Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne...	ORPHA:85445
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Citrullinemia Type Ii	Hypercholesterolemia, Hypoproteinemia, Lethargy, Acute hyperammonemia, Hypertriglyceridemia, Hypo...	ORPHA:247585
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Nephronophthisis 2	Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr...	OMIM:602088
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology	ORPHA:1852
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide lev...	ORPHA:157215
Birdshot Chorioretinopathy	Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua...	ORPHA:179
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s...	OMIM:616002
Dengue Fever	Hypoproteinemia, Lethargy	ORPHA:99828
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia	OMIM:146200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Congenital Analbuminemia	Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia	ORPHA:86816
Secondary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia	ORPHA:90363
Malignant Hyperthermia, Susceptibility To, 2	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia	OMIM:154275
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia	ORPHA:99879
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Absence of renal corticomedullary dif...	OMIM:263200
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy, Retinal degeneration	OMIM:257970
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration	OMIM:614844
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Malignant Hyperthermia, Susceptibility To, 3	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia	OMIM:154276
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat...	OMIM:603553
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Lethargy, Increased circulating free fatty acid level, Elevated ci...	ORPHA:26793
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Lattice Degeneration Of Retina Leading To Retinal Detachment	Lattice retinal degeneration, Retinal detachment	OMIM:150500
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Congenital Anomalies Of Kidney And Urinary Tract 2	Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult...	OMIM:143400
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Hyperphosphatemia, Polyuria, And Seizures	Hyperphosphatemia	OMIM:239350
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia	OMIM:145600
Autosomal Dominant Polycystic Kidney Disease	Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Recurrent urinary tract infections, Decr...	ORPHA:730
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment	OMIM:614224
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia, Hypoalbuminemia	ORPHA:90362
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia	OMIM:235255
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia, Gait disturbance	ORPHA:93160
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Abnormal retinal morphology on macular OCT, Macular dystrophy, Membranoprolifera...	ORPHA:251004
Cystinosis	Hypophosphatemia, Gait disturbance, Hypokalemia	ORPHA:213
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Difficulty walking, Hypophosphatemia	OMIM:600081
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral...	OMIM:305390
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypouricemia, Hypokalemia	OMIM:227810
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Difficulty walking, Hypophosphatemic rickets, Hypophosphatemia	OMIM:241530
Uremic Pruritus	Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen	ORPHA:94059
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Enlarged kidney, Chorioretinal hypopigmentation, Renal tubula...	OMIM:617303
Papillorenal Syndrome	Renal malrotation, Horseshoe kidney, Renal hypoplasia, Retinal coloboma, Chorioretinal atrophy, M...	OMIM:120330
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia, Gait disturbance	ORPHA:352540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ...	OMIM:613092
Colchicine Poisoning	Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:31824
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia, Waddling gait	OMIM:156400
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Chédiak-Higashi Syndrome	Inability to walk, Increased circulating ferritin concentration, Hypoproteinemia, Gait disturbanc...	ORPHA:167
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:307800
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia	ORPHA:1655
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio...	OMIM:232200
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Hemorrhagic Fever-Renal Syndrome	Hypoproteinemia	ORPHA:340
Hereditary Fructose Intolerance	Hypermagnesemia, Lethargy, Hyperuricemia, Hypophosphatemia	ORPHA:469
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Long-ch...	OMIM:608836
Autoimmune Hypoparathyroidism	Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:36913
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Enlarged kidney, Hepatomegaly, Decreased glomerular filtratio...	OMIM:232220
Hypocalcemic Vitamin D-Dependent Rickets	Difficulty walking, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypercalcemia	OMIM:600740
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Diaphanospondylodysostosis	Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney	OMIM:608022
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Calcinosis, Hypercalcemia	OMIM:239200
Nephronophthisis 13	Nephronophthisis, Mild proteinuria, Renal hypoplasia, Retinal dystrophy, Stage 5 chronic kidney d...	OMIM:614377
Hyperphosphatasia With Mental Retardation Syndrome 3	Hyperphosphatemia	OMIM:614207
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hepatomegaly, Renal dysplasia, Ureteral atresia, Polycystic kidney dysplasia, Re...	OMIM:208540
Renal Coloboma Syndrome	Renal hypoplasia, Retinal coloboma, Optic disc coloboma, Multicystic kidney dysplasia, Renal dysp...	ORPHA:1475
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94089
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Tyrosinemia, Type I	Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Splenomegaly, Renal Fanconi syndrome, Renal ...	OMIM:276700
Endocrine-Cerebroosteodysplasia	Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis	OMIM:612651
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Enlarged kidney, Heparan sulfate excretion in urine, Optic a...	ORPHA:505248
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Alport Syndrome 3, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei...	ORPHA:405
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Optic atrophy, Optic disc pallor	OMIM:609541
Primary Fanconi Renotubular Syndrome	Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu...	ORPHA:3337
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:411634
Dent Disease 1	Hypophosphatemia	OMIM:300009
Fibrous Dysplasia Of Bone	Difficulty walking, Hypercalcemia, Antalgic gait, Hypophosphatemia	ORPHA:249
Fructose Intolerance, Hereditary	Hypophosphatemia, Lethargy, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia, Hyperuricosuria	OMIM:229600
Igg4-Related Kidney Disease	Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret...	ORPHA:449395
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Familial Parathyroid Adenoma	Hypophosphatemia, Hypercalcemia	ORPHA:99877
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613091
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Kaposiform Lymphangiomatosis	Splenomegaly, Multiple renal cysts, Hepatosplenomegaly, Enlarged kidney	ORPHA:464329
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia	OMIM:612462
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia	OMIM:239000
Primary Parathyroid Hyperplasia	Hypophosphatemia, Hypercalcemia	ORPHA:99878
H Syndrome	Hepatosplenomegaly, Micropenis, Abnormality of the kidney, Enlarged kidney	ORPHA:168569
Beckwith-Wiedemann Syndrome	Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Vesicoureteral reflu...	OMIM:130650
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Infantile Nephropathic Cystinosis	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:411629
Thyrotoxic Periodic Paralysis	Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia...	ORPHA:79102
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Bifid ureter, Enlarged kidney, Retinal coloboma, Multicystic kidney dysplasia,...	ORPHA:500095
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Raine Syndrome	Hypophosphatemia	OMIM:259775
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Enlarged kidney	ORPHA:276280
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Optic atrophy, Optic disc pallor	ORPHA:320406
Neuroleptic Malignant Syndrome	Hypocalcemia, Hypernatremia, Hyponatremia, Hyperuricemia, Elevated circulating creatine kinase co...	ORPHA:94093
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Pearson Syndrome	Hypophosphatemia, Hypocalcemia, Ataxia, Hypokalemia, Hyperalaninemia, Hypomagnesemia	ORPHA:699
Multiple Myeloma	Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia	ORPHA:29073
Beckwith-Wiedemann Syndrome	Multiple renal cysts, Enlarged kidney, Congenital megaureter, Visceromegaly, Nephropathy, Hepatom...	ORPHA:116
Autosomal Dominant Hypocalcemia	Writer's cramp, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Recurrent urinary tract infections, Oliguria, Reduced renal...	ORPHA:731
Hyperparathyroidism-Jaw Tumor Syndrome	Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia	ORPHA:143
Dent Disease	Elevated circulating creatine kinase concentration, Hyperuricosuria, Renal hypophosphatemia	ORPHA:1652
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Tubulointerstitial fibrosis, Enlarged kidney, Hepatomegaly, Stage 5 chronic kidney disease, Nephr...	ORPHA:79259
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia	ORPHA:423
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Oculocerebrorenal Syndrome Of Lowe	Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hypokalemia, Attention defic...	ORPHA:534
Tay-Sachs Disease	Exaggerated startle response, Cherry red spot of the macula	OMIM:272800
Pseudohypoparathyroidism Type 1C	Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalcemi...	ORPHA:79444
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Exaggerated startle response, Cardiomegaly, Hepatosplenomegal...	OMIM:268800
Autosomal Recessive Hypophosphatemic Rickets	Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Leprechaunism	Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Nephrocalcinosis	ORPHA:508
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Hyperphosphatemia	ORPHA:457059
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Cherry red spot of the macula	ORPHA:309246
Hypophosphatemic Rickets	Hypophosphatemia, Hypercalcemia	ORPHA:437
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Pseudohypoparathyroidism Type 1A	Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalcemi...	ORPHA:79443
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Lethargy, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia,...	ORPHA:466650
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal dysplasia, Exaggerated startle response, Optic atrophy, Retinal detachment	OMIM:253800
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Nephroblastoma, Duplication of renal pelvis, Renal cyst, Splenomeg...	OMIM:312870
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Acrodysostosis With Multiple Hormone Resistance	Hypocalcemia, Hyperphosphatemia, Hyperactivity	ORPHA:280651
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Increased urinary galactosylated oligosaccharide, Urinary glycosami...	ORPHA:79255
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy	OMIM:617301
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response	OMIM:272750
Asparagine Synthetase Deficiency	Exaggerated startle response	OMIM:615574
Tay-Sachs Disease	Tremor, Optic atrophy, Cherry red spot of the macula, Exaggerated startle response	ORPHA:845
Leptospirosis	Hyperproteinemia	ORPHA:509
Aromatic L-Amino Acid Decarboxylase Deficiency	Limb tremor, Exaggerated startle response	OMIM:608643
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy	OMIM:617527
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy	ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response	ORPHA:438216
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Vesicoureteral reflux, Hydronephrosis, Nephrolithiasis, Optic disc ...	ORPHA:438213

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 Calcoco1

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 Calcoco1.

No publications found that use IMPC mice or data for Calcoco1.

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MGI Allele	Allele Type	Produced
Calcoco1^{tm2a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Calcoco1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Calcoco1^em1(IMPC)H	Exon Deletion	Mice
Calcoco1^em2(IMPC)H	Exon Deletion	Mice

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