Gene Summary

Name:
neuronal calcium sensor 1
Synonyms:
NCS-1,  A730032G13Rik,  Freq,  9430075O15Rik

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 total retina thickness Ncs1tm1b(EUCOMM)Hmgu HOM Early adult 6.37×10-05
preweaning lethality, incomplete penetrance Ncs1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased circulating phosphate level Ncs1tm1b(EUCOMM)Hmgu HOM Early adult 5.97×10-05
abnormal cornea morphology Ncs1tm1b(EUCOMM)Hmgu HOM Early adult 1.28×10-05
decreased grip strength Ncs1tm1b(EUCOMM)Hmgu HOM Early adult 2.42×10-06

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ncs1 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 Ncs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hyperphosphatemia, Hypocalcemia OMIM:146200
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Macular Dystrophy, Corneal
Corneal dystrophy, Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the c... OMIM:217800
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Conjunctiv... ORPHA:36913
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Retinal detachment, Astigmatism, Lens subluxation, Mosaic ... OMIM:309300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits, Angioid streaks of the fundus, Calcinosis, Hyperphosphat... OMIM:211900
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea, Hypophosphate... ORPHA:2611
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Retinal detachment, Corneal opacity ORPHA:90654
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Cataract, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Conjunctiv... ORPHA:94089
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Developmental cataract, Transient hypophosphatemia, Hypocalcemia, Papilled... OMIM:127000
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Retinal degeneration, Hyperuricemia, Hyperphosphatemia, Hydroxyproline... OMIM:239000
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Sanjad-Sakati Syndrome
Hyperphosphatemia, Astigmatism, Corneal opacity, Hypocalcemia ORPHA:2323
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Cataract, Retinal detachment, Corneal guttata, Retinal dots... OMIM:193230
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Developmental cataract, Hypocalcemic seizures, Papilledema, Hyperphosphate... ORPHA:93325
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Blue irides, Optic atrophy OMIM:101800
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Cataract, Hypocalcemia, Calcinosis, Hyperphosphatemia, Hypocalcemic tetany... ORPHA:79444
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kinase con... ORPHA:94093
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Optic atrophy ORPHA:428
Pseudohypoparathyroidism Type 1A
Band keratopathy, Hypocalcemic seizures, Cataract, Hypocalcemia, Calcinosis, Hyperphosphatemia, H... ORPHA:79443
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Cystinosis
Retinopathy, Hypokalemia, Corneal opacity, Hypophosphatemia ORPHA:213
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal cornea morphology, Abnormal blood ion concentration, Corneal crystals, Pigm... ORPHA:411629
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Blue irides ORPHA:280651
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Hypophosphatemia ORPHA:157215
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypocalcemia, Hyperphosphatemia ORPHA:466650
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Buph... ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Juvenile Nephropathic Cystinosis
Hypokalemia, Abnormal cornea morphology, Elevated circulating creatinine concentration, Hyponatre... ORPHA:411634
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Alport Syndrome 3, Autosomal Dominant
Lenticonus, Hypophosphatemia, Anterior polar cataract, Azotemia OMIM:104200
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Vitritis, Vitreoretinopathy, Corneal keratic precipitates, Cy... ORPHA:209959
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Hereditary Fructose Intolerance
Cataract, Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Cystinosis, Nephropathic
Retinopathy, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decreased plasma carnitine, Cor... OMIM:219800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hypouricemia OMIM:616026
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures ORPHA:289157
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Pearson Syndrome
Hypokalemia, Cataract, Hypocalcemia, Corneal stromal edema, Pigmentary retinopathy, Hypophosphate... ORPHA:699
Opsismodysplasia
Hypophosphatemia OMIM:258480
Raine Syndrome
Neonatal death, Hypophosphatemia OMIM:259775
Dent Disease 1
Hypophosphatemia OMIM:300009
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hypokalemia, Hyponatremia, Chorioretinal dysplasia, Hypercholesterolemia, Hypoammone... ORPHA:534
Primary Fanconi Renotubular Syndrome
Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets, Decreased plasma carnitin... ORPHA:3337
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Dent Disease
Elevated circulating creatine kinase concentration, Cataract, Renal hypophosphatemia, Hyperuricos... ORPHA:1652
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Optic nerve compression ORPHA:667
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936

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 Ncs1

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 Ncs1.

No publications found that use IMPC mice or data for Ncs1.

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MGI Allele Allele Type Produced
Ncs1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ncs1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ncs1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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