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Gene: Col16a1 MGI:1095396

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Gene Summary

Name:
collagen, type XVI, alpha 1
Synonyms:
2700007F12Rik,  A530052M23Rik,  [a]1 (XVI) collagen

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Col16a1em1(IMPC)J HOM Early adult 3.74×10-11
decreased circulating calcium level Col16a1em1(IMPC)J HOM Early adult 4.73×10-14
decreased grip strength Col16a1em1(IMPC)J HOM Early adult 4.09×10-06
cataract Col16a1em1(IMPC)J HOM Early adult 7.01×10-06

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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.

X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Col16a1 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 Col16a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration ORPHA:254704
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus, Decreased HDL cholesterol concentration OMIM:618463
Cataract 42
Cataract, Developmental cataract OMIM:115900
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Trichomegaly
Cataract OMIM:190330
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Nathalie Syndrome
Cataract ORPHA:2663
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... ORPHA:36913
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Familial Isolated Hypoparathyroidism
Cataract, Hypocalcemia ORPHA:2238
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Congenital Disorder Of Glycosylation, Type Ij
Cataract, Hypoproteinemia OMIM:608093
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration OMIM:609115
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Pseudohypoparathyroidism Type 1B
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... ORPHA:94089
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cataract OMIM:612462
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... ORPHA:247585
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Developmental cataract ORPHA:557003
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cataract, Hypocalcemia, Hypomagnesemia OMIM:175500
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Dengue Fever
Hypoproteinemia ORPHA:99828
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Cataract 47
Cataract, Microcornea OMIM:612018
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Developmental cataract OMIM:618440
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Developmental cataract, Transient hypophosphatemia OMIM:127000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Omenn Syndrome
Hypoproteinemia OMIM:603554
Sanjad-Sakati Syndrome
Astigmatism, Hyperphosphatemia, Hypocalcemia, Corneal opacity ORPHA:2323
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Gracile Bone Dysplasia
Aniridia, Hypocalcemia OMIM:602361
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
X-Linked Agammaglobulinemia
Conjunctivitis, Hypocalcemia ORPHA:47
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Band keratopathy, Hyperamylasemia OMIM:604278
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Timothy Syndrome
Hypocalcemia OMIM:601005
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Elevated circulating creatinine conce... ORPHA:411634
Chédiak-Higashi Syndrome
Iris hypopigmentation, Increased circulating ferritin concentration, Hyponatremia, Hypertriglycer... ORPHA:167
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Galactose Mutarotase Deficiency
Cataract, Hypergalactosemia ORPHA:570422
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Pseudohypoparathyroidism Type 1C
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Conjunctivitis, Hypoc... ORPHA:79444
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Cataract OMIM:103580
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Con... ORPHA:79443
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia OMIM:259700
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Hypophosphatasia
Hypercalcemia ORPHA:436
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Celiac Disease, Susceptibility To, 1
Hypocalcemia OMIM:212750
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Conjunctival whitish salt-like deposits, Hyperphosphatemia, Calcinosis OMIM:211900
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Aniridia 3
Cataract, Aniridia OMIM:617142
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Velocardiofacial Syndrome
Posterior embryotoxon, Hypocalcemia OMIM:192430
Pearson Syndrome
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Corneal stromal edema, Hypophosphatemia, Hyp... ORPHA:699
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Gaisböck Syndrome
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... ORPHA:90041
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Cartilage-Hair Hypoplasia
Hypocalcemia ORPHA:175
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Developmental cataract ORPHA:93325
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia ORPHA:171844
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma OMIM:216820
22Q11.2 Deletion Syndrome
Cataract, Posterior embryotoxon, Corneal neovascularization, Hypocalcemia ORPHA:567
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Gitelman Syndrome
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:2785
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Acute Adrenal Insufficiency
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:95409
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Hypercalcemia ORPHA:29072
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Astigmatism, Hypertriglyceridemia ORPHA:369837
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hypomagnesemia OMIM:619503
Digeorge Syndrome
Sclerocornea, Posterior embryotoxon, Hypocalcemia OMIM:188400
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Addison Disease
Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level ORPHA:85138
Charge Syndrome
Cataract, Iris coloboma, Hypocalcemia OMIM:214800
Leptospirosis
Conjunctival hyperemia, Hyperproteinemia ORPHA:509
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Johanson-Blizzard Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol con... OMIM:243800
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers ORPHA:653
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Williams Syndrome
Cataract, Abnormal circulating lipid concentration, Megalocornea, Aplasia/Hypoplasia of the iris,... ORPHA:904
Ppoma
Hypercalcemia ORPHA:97278
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Sarcoidosis
Cataract, Keratoconjunctivitis sicca, Hypercalcemia, Abnormal conjunctiva morphology ORPHA:797
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Sotos Syndrome
Cataract, Hypercalcemia, Astigmatism ORPHA:821
Williams-Beuren Syndrome
Hypercalcemia, Blue irides OMIM:194050

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 Col16a1

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 Col16a1.

No publications found that use IMPC mice or data for Col16a1.

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MGI Allele Allele Type Produced
Col16a1tm352048(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Col16a1em1(IMPC)J Exon Deletion Mice

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