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
embryonic lethality prior to organogenesis Cog7tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
impaired pupillary reflex Cog7tm1b(EUCOMM)Hmgu HET Early adult 1.11×10-05
preweaning lethality, complete penetrance Cog7tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
corneal deposits Cog7tm1b(EUCOMM)Hmgu HET Early adult 9.23×10-07
abnormal sinus arrhythmia Cog7tm1b(EUCOMM)Hmgu HET Early adult 8.14×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

Adult LacZ

LacZ Images Section

5 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral 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 dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... OMIM:217800
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... ORPHA:98960
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Corneal crystals OMIM:219750
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma 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, Conjunctival hyperemia, Epiretinal membrane OMIM:148200
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Ocular Cystinosis
Corneal crystals ORPHA:411641
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... OMIM:309300
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy OMIM:210370
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Dermoids Of Cornea
Corneal opacity OMIM:304730
Autosomal Dominant Keratitis
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... ORPHA:2334
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... ORPHA:171673
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Acute Zonal Occult Outer Retinopathy
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... ORPHA:284454
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Dystonia OMIM:252650
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... ORPHA:41751
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... OMIM:310600
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Cherubism
Macular scar, Optic neuropathy, Marcus Gunn pupil OMIM:118400
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Intermediate Uveitis
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... ORPHA:279914
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia OMIM:230650
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Aniridia 1
Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Hypoplasia of the iris, Corneal n... OMIM:106210
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Morquio Syndrome C
Corneal opacity OMIM:252300
Hepatic Lipase Deficiency
Corneal arcus, Angina pectoris OMIM:614025
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals, Pigmentary retinopathy ORPHA:411629
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma OMIM:252605
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... ORPHA:1473
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Juvenile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals, Hypovolemia ORPHA:411634
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula OMIM:256540
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... OMIM:256800
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus OMIM:245900
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Pelvis-Shoulder Dysplasia
Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma OMIM:169550
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Angina pectoris ORPHA:425
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... ORPHA:137902
Congenital Primary Aphakia
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... ORPHA:83461
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Mucolipidosis Iii Alpha/Beta
Retinopathy, Hyperopic astigmatism, Retinal degeneration, Aortic regurgitation, Opacification of ... OMIM:252600
Cystinosis, Nephropathic
Retinopathy, Retinal pigment epithelial mottling, Corneal crystals, Recurrent corneal erosions, P... OMIM:219800
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Pete... OMIM:612582
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Bra... OMIM:618815
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Herpes Simplex Virus Stromal Keratitis
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... ORPHA:137599
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Brushfield spots, Cataract, Opacification of the corneal stroma, Pigmentar... OMIM:214110
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Axenfeld-Rieger Syndrome, Type 2
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea OMIM:601499
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Pseudo-Torch Syndrome 1
Cataract, Dystonia, Opacification of the corneal stroma OMIM:251290
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Schimke Immunoosseous Dysplasia
Pulmonary arterial hypertension, Cerebral ischemia, Transient ischemic attack, Hypertension, Asti... OMIM:242900
Scheie Syndrome
Aortic regurgitation, Retinal degeneration, Corneal opacity, Aortic valve stenosis OMIM:607016
Carpenter Syndrome 1
Opacification of the corneal stroma, Pulmonic stenosis, Optic atrophy, Microcornea OMIM:201000
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Neurotrophic Keratopathy
Allodynia, Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent c... ORPHA:137596
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Brushfield spots, Rod-cone dystrophy, Optic atrophy, Heart murmur, Aortic ... OMIM:614866
Hurler Syndrome
Retinal degeneration, Aortic regurgitation, Mitral regurgitation, Corneal opacity, Opacification ... OMIM:607014
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... OMIM:221900
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Corneal neovascularization, Cataract, Opacification of the corneal stroma, ... OMIM:158310
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Opacification of the corneal stroma, Mitral regurgitation, Corneal opacity OMIM:253010
Persistent Hyperplastic Primary Vitreous
Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Persistent pupillary membrane... ORPHA:91495
Oculoectodermal Syndrome
Transient ischemic attack, Limbal dermoid, Microcornea, Hypertrophic cardiomyopathy, Astigmatism,... OMIM:600268
Farber Disease
Abnormal conjunctiva morphology, Macular degeneration, Corneal opacity, Opacification of the corn... ORPHA:333
Cutis Laxa, Autosomal Recessive, Type Iiia
Corneal arcus, Athetosis, Cataract OMIM:219150
Oligoarticular Juvenile Idiopathic Arthritis
Anterior chamber synechiae, Cataract, Band keratopathy ORPHA:85410
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Cataract, Opacification of the corneal stroma, Optic disc pallor, Pigmentary re... OMIM:214100
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis ORPHA:163934
Fish-Eye Disease
Corneal opacity, Angina pectoris ORPHA:79292
Galloway-Mowat Syndrome 1
Optic atrophy, Hypoplasia of the iris, Cataract, Opacification of the corneal stroma, Dystonia OMIM:251300
Gaucher Disease, Type Iiic
Mitral stenosis, Opacification of the corneal stroma OMIM:231005
Mucopolysaccharidosis Type 3
Rod-cone dystrophy, Optic atrophy, Reduced left ventricular ejection fraction, Retinal degenerati... ORPHA:581
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Lip telangiectasia, Telangiectasia of the oral mucosa, Telan... ORPHA:79280
Cockayne Syndrome B
Optic atrophy, Hypoplasia of the iris, Hypertension, Developmental cataract, Microcornea, Tremor,... OMIM:133540
Xeroderma Pigmentosum
Telangiectasia, Optic atrophy, Pterygium, Cataract, Conjunctival telangiectasia, Telangiectasia o... ORPHA:910
Blau Syndrome
Iritis, Hypertension, Pericarditis, Cystoid macular edema, Cataract, Band keratopathy OMIM:186580
Cockayne Syndrome A
Optic atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Hypertension, Cataract, Trem... OMIM:216400
Oculoauricular Syndrome
Morning glory anomaly, Rod-cone dystrophy, Posterior embryotoxon, Cone/cone-rod dystrophy, Macula... OMIM:612109
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Lathosterolosis
Cataract, Opacification of the corneal stroma, Microcornea ORPHA:46059
Mucolipidosis Ii Alpha/Beta
Megalocornea, Heart murmur, Congestive heart failure, Aortic regurgitation, Hypertrophic cardiomy... OMIM:252500
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Noonan Syndrome 9
Prominent corneal nerve fibers, Pulmonic stenosis OMIM:616559
Progeria-Short Stature-Pigmented Nevi Syndrome
Supraventricular arrhythmia, Band keratopathy, Cataract ORPHA:2959
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Megalocornea, Optic atrophy, Wolff-Parki... ORPHA:137675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Megalocornea, Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Ret... OMIM:253280
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Knobloch Syndrome 1
Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Attenuation of retinal ... OMIM:267750
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Opacification of the corneal stroma OMIM:601559
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin ORPHA:2907
Cockayne Syndrome
Retinal hemorrhage, Retinal arteriolar constriction, Lentiglobus, Optic atrophy, Retinal atrophy,... ORPHA:191
Bartsocas-Papas Syndrome 1
Pterygium, Axillary pterygium, Popliteal pterygium, Opacification of the corneal stroma, Corneal ... OMIM:263650
Dysbetalipoproteinemia
Corneal arcus, Angina pectoris ORPHA:412
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea OMIM:259600
Familial Dysautonomia
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Hypertension, Heterochromia iridis, Co... ORPHA:1764
Lathosterolosis
Cataract, Opacification of the corneal stroma OMIM:607330
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Keratoconjunctivitis, Band keratopathy OMIM:269200
H Syndrome
Abnormal cardiovascular system physiology, Corneal arcus, Facial telangiectasia ORPHA:168569
Pseudohypoparathyroidism Type 1A
Conjunctivitis, Choreoathetosis, Hypertension, Prolonged QT interval, Cataract, Laryngeal dystoni... ORPHA:79443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Opacification of the corneal stroma, Retinal dysplasia OMIM:615287
Alagille Syndrome 1
Posterior embryotoxon, Axenfeld anomaly, Microcornea, Cataract, Chorioretinal atrophy, Band kerat... OMIM:118450
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Histiocytosis-Lymphadenopathy Plus Syndrome
Pulmonary arterial hypertension, Corneal arcus, Facial telangiectasia, Pulmonic stenosis OMIM:602782
Sitosterolemia 1
Corneal arcus OMIM:210250
Noonan Syndrome 10
Mitral stenosis, Prominent corneal nerve fibers, Hypertrophic cardiomyopathy, Mitral regurgitatio... OMIM:616564
Proteasome-Associated Autoinflammatory Syndrome 1
Conjunctivitis, Punctate opacification of the cornea, Congestive heart failure, Arrhythmia OMIM:256040
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Corneal neovascularization, Keratitis, Opacification of the corneal stroma, Recurre... OMIM:308205
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage, Limb dystonia, P... OMIM:175780
Proximal Renal Tubular Acidosis
Cataract, Hypovolemia, Band keratopathy ORPHA:47159
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Prominent corneal nerve fibers, Hypertension associated with pheochromocytom... ORPHA:653
Roberts-Sc Phocomelia Syndrome
Opacification of the corneal stroma, Cataract, Corneal opacity 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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