Gene Summary

Name:
calcium binding and coiled coil domain 1
Synonyms:
1810009B06Rik,  CoCoA,  Gcap11

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Calcoco1em1(IMPC)H HOM Early adult 2.25×10-07
enlarged urinary bladder Calcoco1em1(IMPC)H HOM Late adult 0.00
decreased circulating phosphate level Calcoco1em1(IMPC)H HOM Early adult 3.03×10-05
abnormal retina morphology Calcoco1em1(IMPC)H HOM Late adult 3.01×10-21
abnormal startle reflex Calcoco1em1(IMPC)H HOM Late adult 8.46×10-06
enlarged kidney Calcoco1em1(IMPC)H HOM Late adult 0.00
abnormal locomotor behavior Calcoco1em1(IMPC)H HOM Early adult 7.46×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

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 Similarity of
phenotypes
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
Calcoco1tm2a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Calcoco1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Calcoco1em1(IMPC)H Exon Deletion Mice
Calcoco1em2(IMPC)H Exon Deletion Mice

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