Gene Summary

Name:
component of oligomeric golgi complex 7
Synonyms:
5630400E24Rik

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
preweaning lethality, complete penetrance Cog7tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
corneal deposits Cog7tm1b(EUCOMM)Hmgu HET Early adult 8.33×10-07
abnormal sinus arrhythmia Cog7tm1b(EUCOMM)Hmgu HET Early adult 8.14×10-05
embryonic lethality prior to organogenesis Cog7tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
impaired pupillary reflex Cog7tm1b(EUCOMM)Hmgu HET Early adult 1.34×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 580)
aorta 0.17% (1 of 581)
brain 0.87% (5 of 577)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 581)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 582)
epididymis 15% (21 of 140)
esophagus 1.75% (7 of 400)
eye 0.0%
heart 0.17% (1 of 576)
hippocampus 0.52% (3 of 576)
hypothalamus 0.34% (2 of 580)
kidney 4.65% (27 of 581)
large intestine 5.51% (32 of 581)
liver 0.0%
lower urinary tract 0.17% (1 of 577)
lung 0.35% (2 of 579)
lymph node 0.17% (1 of 575)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.35% (2 of 576)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 583)
peripheral nervous system 0.17% (1 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 573)
prostate gland 2.08% (12 of 577)
skeletal muscle 0.0%
skin 0.17% (1 of 581)
small intestine 5.01% (29 of 579)
spinal cord 0.52% (3 of 581)
spleen 0.52% (3 of 580)
stomach 3.61% (21 of 582)
striatum 0.51% (3 of 584)
submandibular gland 1.4% (2 of 143)
testis 1.03% (6 of 581)
thalamus 0.0%
thymus 0.17% (1 of 581)
thyroid gland 2.89% (17 of 588)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.35% (2 of 571)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.72% (6 of 349)
dorsal root ganglion 0.0%
ear 0.29% (1 of 349)
embryo 0.29% (1 of 348)
eye 0.0%
footplate 0.28% (1 of 352)
forebrain 0.0%
forelimb 0.28% (1 of 357)
fronto-nasal process 2.04% (1 of 49)
handplate 0.3% (1 of 335)
head 1.39% (5 of 359)
heart 0.28% (1 of 361)
hindbrain 1.2% (4 of 332)
hindlimb 0.28% (1 of 355)
liver 0.0%
lung 0.29% (1 of 348)
mandibular process 0.28% (1 of 352)
maxillary process 0.29% (1 of 345)
midbrain 0.29% (1 of 343)
nose 1.54% (1 of 65)
oral cavity 0.0%
skin 0.29% (1 of 339)
spinal cord 0.0%
tail 0.28% (1 of 353)
tail somite group 0.29% (1 of 347)

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 Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

5 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Cog7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cog7 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure OMIM:608779
Cog7-Cdg
ORPHA:79333

The table below shows human diseases predicted to be associated to Cog7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, Corneal dyst... OMIM:217800
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia OMIM:148200
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ocular Cystinosis
Corneal crystals ORPHA:411641
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Opacification of the corneal stroma, Optic atrophy, Dystonia OMIM:252650
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Cherubism
Optic neuropathy, Macular scar, Marcus Gunn pupil OMIM:118400
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Vasculitis, Cataract, Epi... ORPHA:279914
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Morquio Syndrome C
Corneal opacity OMIM:252300
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Hepatic Lipase Deficiency
Angina pectoris, Corneal arcus OMIM:614025
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Pigmentary retinopathy, Corneal crystals ORPHA:411629
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Opacification of the corneal stroma OMIM:252605
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Microcornea ORPHA:2432
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Juvenile Nephropathic Cystinosis
Hypovolemia, Abnormal cornea morphology, Corneal crystals ORPHA:411634
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula OMIM:256540
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma, Optic disc coloboma OMIM:169550
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy, Opacification of the corneal stroma, Hyperopic astigmatism, Ao... OMIM:252600
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic ... ORPHA:137902
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Retinopathy, Recurrent corneal erosions, Pigmentary retinopa... OMIM:219800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Retinal dysplasia, Optic nerve dysplasia OMIM:615287
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Bra... OMIM:618815
Chromosome 6Pter-P24 Deletion Syndrome
Axenfeld anomaly, Opacification of the corneal stroma, Posterior embryotoxon, Pigmentary retinopa... OMIM:612582
Herpes Simplex Virus Stromal Keratitis
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... ORPHA:137599
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Opacification of the corneal stroma, Pigmentary retinopathy, Optic nerve dysplasia, Cataract, Bru... OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Pigmentary retinopathy, Optic nerve dysplasia, Cataract, Bru... OMIM:214110
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Mucoepithelial Dysplasia, Hereditary
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ca... OMIM:158310
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... OMIM:120200
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract, Dystonia OMIM:251290
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Schimke Immunoosseous Dysplasia
Opacification of the corneal stroma, Cerebral ischemia, Astigmatism, Hypertension, Transient isch... OMIM:242900
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Scheie Syndrome
Corneal opacity, Aortic valve stenosis, Retinal degeneration, Aortic regurgitation OMIM:607016
Cutis Laxa, Autosomal Recessive, Type Iiia
Cataract, Corneal arcus, Athetosis OMIM:219150
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Carpenter Syndrome 1
Optic atrophy, Pulmonic stenosis, Opacification of the corneal stroma, Microcornea OMIM:201000
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... ORPHA:137596
Hurler Syndrome
Corneal opacity, Retinal degeneration, Mitral regurgitation, Opacification of the corneal stroma,... OMIM:607014
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions OMIM:308205
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Oculoectodermal Syndrome
Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism, Transient ischemic... OMIM:600268
Farber Disease
Corneal opacity, Cherry red spot of the macula, Macular degeneration, Opacification of the cornea... ORPHA:333
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Opacification of the corneal stroma OMIM:253010
Oligoarticular Juvenile Idiopathic Arthritis
Anterior chamber synechiae, Band keratopathy, Cataract ORPHA:85410
Peroxisome Biogenesis Disorder 1A (Zellweger)
Opacification of the corneal stroma, Pigmentary retinopathy, Optic disc pallor, Cataract, Brushfi... OMIM:214100
Atopic Keratoconjunctivitis
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Keratoconjunctivitis sicca ORPHA:163934
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Gaucher Disease, Type Iiic
Mitral stenosis, Opacification of the corneal stroma OMIM:231005
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Mucopolysaccharidosis Type 3
Corneal opacity, Retinal degeneration, Rod-cone dystrophy, Opacification of the corneal stroma, P... ORPHA:581
Galloway-Mowat Syndrome 1
Opacification of the corneal stroma, Optic atrophy, Hypoplasia of the iris, Cataract, Dystonia OMIM:251300
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Blau Syndrome
Band keratopathy, Cystoid macular edema, Iritis, Cataract, Hypertension, Pericarditis OMIM:186580
Cockayne Syndrome B
Opacification of the corneal stroma, Microcornea, Pigmentary retinopathy, Arrhythmia, Optic atrop... OMIM:133540
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Opacification of the corneal stroma, Telangiectas... ORPHA:79280
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Cockayne Syndrome A
Retinal pigment epithelial mottling, Opacification of the corneal stroma, Pigmentary retinopathy,... OMIM:216400
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Xeroderma Pigmentosum
Keratitis, Telangiectasia of the skin, Conjunctival telangiectasia, Opacification of the corneal ... ORPHA:910
Mucolipidosis Ii Alpha/Beta
Mitral regurgitation, Megalocornea, Opacification of the corneal stroma, Heart murmur, Aortic reg... OMIM:252500
Lathosterolosis
Opacification of the corneal stroma, Cataract, Microcornea ORPHA:46059
Iridocorneal Endothelial Syndrome
Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... ORPHA:64734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Buphthalmos, Megalocornea, Opacification of the c... OMIM:253280
Noonan Syndrome 9
Pulmonic stenosis, Prominent corneal nerve fibers OMIM:616559
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Wolff-Parkinson-White syndrome, Supraventricular tachycardia... ORPHA:137675
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Band keratopathy, Cataract ORPHA:2959
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Knobloch Syndrome 1
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Retinal detachment, Attenuation of ret... OMIM:267750
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Opacification of the corneal stroma OMIM:601559
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Keratoconjunctivitis, Opacification of the corneal stroma ORPHA:2907
Cockayne Syndrome
Corneal ulceration, Abnormal cornea morphology, Action tremor, Band keratopathy, Retinal degenera... ORPHA:191
Bartsocas-Papas Syndrome 1
Corneal ulceration, Opacification of the corneal stroma, Popliteal pterygium, Axillary pterygium,... OMIM:263650
Familial Dysautonomia
Corneal opacity, Abnormal pupil morphology, Orthostatic hypotension, Tachycardia, Optic atrophy, ... ORPHA:1764
Dysbetalipoproteinemia
Angina pectoris, Corneal arcus ORPHA:412
Lathosterolosis
Opacification of the corneal stroma, Cataract OMIM:607330
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Autoimmune Polyendocrine Syndrome, Type Ii
Keratoconjunctivitis, Band keratopathy, Cataract OMIM:269200
H Syndrome
Abnormal cardiovascular system physiology, Facial telangiectasia, Corneal arcus ORPHA:168569
Pseudohypoparathyroidism Type 1A
Band keratopathy, Laryngeal dystonia, Prolonged QT interval, Choreoathetosis, Cataract, Hypertens... ORPHA:79443
Alagille Syndrome 1
Band keratopathy, Abnormal anterior chamber morphology, Axenfeld anomaly, Chorioretinal atrophy, ... OMIM:118450
Histiocytosis-Lymphadenopathy Plus Syndrome
Pulmonic stenosis, Pulmonary arterial hypertension, Facial telangiectasia, Corneal arcus OMIM:602782
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Noonan Syndrome 10
Mitral stenosis, Pulmonic stenosis, Mitral regurgitation, Prominent corneal nerve fibers, Hypertr... OMIM:616564
Sitosterolemia 1
Corneal arcus OMIM:210250
Proteasome-Associated Autoinflammatory Syndrome 1
Punctate opacification of the cornea, Conjunctivitis, Arrhythmia, Congestive heart failure OMIM:256040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Cerebral hemorrhage, Corneal neovascularization, Ectopia pupillae, Mi... OMIM:175780
Proximal Renal Tubular Acidosis
Hypovolemia, Band keratopathy, Cataract ORPHA:47159
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Palpitations, Prominent corneal nerve fibers, Hype... ORPHA:653
Roberts-Sc Phocomelia Syndrome
Opacification of the corneal stroma, Cataract OMIM:268300
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure OMIM:608779
Cog7-Cdg
ORPHA:79333

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 Cog7

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 Cog7.

No publications found that use IMPC mice or data for Cog7.

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MGI Allele Allele Type Produced
Cog7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cog7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cog7tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Cog7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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