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
corneal deposits Cog7tm1b(EUCOMM)Hmgu HET Early adult 4.95×10-07
abnormal sinus arrhythmia Cog7tm1b(EUCOMM)Hmgu HET Early adult 8.14×10-05
impaired pupillary reflex Cog7tm1b(EUCOMM)Hmgu HET Early adult 5.43×10-06
preweaning lethality, complete penetrance Cog7tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

5 Images

X-ray

XRay Images Forepaw

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
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Punctate opacification of the cornea, Corneal dyst... OMIM:217800
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Cystinosis, Adult Nonnephropathic
Corneal crystals, Abnormal retinal morphology 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
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract, Sudden cardiac death, Arrhythmia OMIM:212500
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma, Keratitis 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
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Corneal crystals, Retinal pigment epithelial mottling OMIM:219900
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Chorioretinal atrophy, Corneal crystals, Retinal degeneration OMIM:210370
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Dermoids Of Cornea
Corneal opacity OMIM:304730
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Glaucoma 3, Primary Congenital, E
Increased cup-to-disc ratio, Corneal stromal edema, Megalocornea OMIM:617272
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Gelatinous Drop-Like Corneal Dystrophy
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... ORPHA:98957
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Dystonia, Opacification of the corneal stroma, Retinal degeneration OMIM:252650
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Crystalline corneal dystroph... ORPHA:41751
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... ORPHA:279914
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Morquio Syndrome C
Corneal opacity OMIM:252300
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Hepatic Lipase Deficiency
Corneal arcus, Angina pectoris OMIM:614025
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Dystonia, Cherry red spot of the macula OMIM:230650
Infantile Nephropathic Cystinosis
Abnormal cornea morphology, Corneal crystals, Pigmentary retinopathy ORPHA:411629
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... 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, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Cherry red spot of the macula OMIM:256540
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Optic disc coloboma, Iris coloboma OMIM:169550
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the... OMIM:256800
Lecithin:Cholesterol Acyltransferase Deficiency
Corneal arcus OMIM:245900
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Cystinosis, Nephropathic
Recurrent corneal erosions, Retinopathy, Corneal crystals, Retinal pigment epithelial mottling, P... OMIM:219800
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Anterior Segment Dysgenesis 5
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... OMIM:604229
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the... OMIM:612582
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Cardiomyopathy, Retinopathy, Hyperopic astigmatism, Severely reduced left v... OMIM:252600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Dilated cardio... OMIM:618815
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Band keratopathy, Optic disc pallor, Hypoplasia of the iris, ... OMIM:614195
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Tangier Disease
Opacification of the corneal stroma, Myocardial infarction OMIM:205400
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Dystonia OMIM:251290
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Brushfield spots, Cataract, Opacification of the corneal stroma, Pigmentar... OMIM:214110
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Mucolipidosis Iii Gamma
Aortic valve stenosis, Opacification of the corneal stroma, Aortic regurgitation OMIM:252605
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Schimke Immunoosseous Dysplasia
Astigmatism, Hypertension, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyper... OMIM:242900
Spondyloepiphyseal Dysplasia, Maroteaux Type
Opacification of the corneal stroma OMIM:184095
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Carpenter Syndrome 1
Optic atrophy, Opacification of the corneal stroma, Microcornea, Pulmonic stenosis OMIM:201000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Optic nerve dysplasia, Optic atrophy, Aortic regurgitation, Athetosis, Tricuspid regurgitation, H... OMIM:614866
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane... OMIM:221900
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Melena, Keratoconjunctivitis, Cataract, Opacification of the corneal ... OMIM:158310
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Opacification of the corneal stroma, Corneal opacity, Mitral regurgitation OMIM:253010
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Corneal opacity, Opacification of the corneal stroma, Retin... OMIM:607014
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of t... ORPHA:91495
Oculoectodermal Syndrome
Astigmatism, Chorioretinal atrophy, Microcornea, Transient ischemic attack, Hypertrophic cardiomy... OMIM:600268
Farber Disease
Macular degeneration, Corneal opacity, Cherry red spot of the macula, Opacification of the cornea... ORPHA:333
Cutis Laxa, Autosomal Recessive, Type Iiia
Corneal arcus, Athetosis, Cataract OMIM:219150
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Megalocornea, Hyp... OMIM:249310
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Cataract, Opacification of the corneal stroma, Optic di... OMIM:214100
Mucopolysaccharidosis Type 3
Optic atrophy, Reduced left ventricular ejection fraction, Corneal opacity, Atrioventricular bloc... ORPHA:581
Galloway-Mowat Syndrome 1
Optic atrophy, Hypoplasia of the iris, Dystonia, Cataract, Opacification of the corneal stroma OMIM:251300
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Anterior chamber synechiae ORPHA:85410
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Telangiectasia of the skin, Telangiectasia of the oral mucos... ORPHA:79280
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Mitral stenosis OMIM:231005
Cockayne Syndrome B
Optic atrophy, Microcornea, Tremor, Hypertension, Hypoplasia of the iris, Developmental cataract,... OMIM:133540
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Cockayne Syndrome A
Optic atrophy, Retinal atrophy, Tremor, Hypertension, Arrhythmia, Cataract, Opacification of the ... OMIM:216400
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... OMIM:612109
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Xeroderma Pigmentosum
Optic atrophy, Pterygium, Conjunctival telangiectasia, Keratitis, Telangiectasia of the skin, Cat... ORPHA:910
Mucolipidosis Ii Alpha/Beta
Congestive heart failure, Aortic regurgitation, Megalocornea, Hypertrophic cardiomyopathy, Heart ... OMIM:252500
Blau Syndrome
Iritis, Cystoid macular edema, Band keratopathy, Hypertension, Pericarditis, Cataract OMIM:186580
Lathosterolosis
Cataract, Opacification of the corneal stroma, Microcornea ORPHA:46059
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Scheie Syndrome
Aortic regurgitation, Corneal opacity, Aortic valve stenosis, Mitral stenosis, Retinal degeneration OMIM:607016
Histiocytoid Cardiomyopathy
Optic atrophy, Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial f... ORPHA:137675
Noonan Syndrome 9
Pulmonic stenosis, Prominent corneal nerve fibers OMIM:616559
Progeria-Short Stature-Pigmented Nevi Syndrome
Cataract, Band keratopathy, Supraventricular arrhythmia ORPHA:2959
Knobloch Syndrome 1
Iris transillumination defect, Retinal detachment, Band keratopathy, Chorioretinal atrophy, Vitre... OMIM:267750
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Pulmonary arterial hypertension OMIM:601559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal atrophy, Megalocornea, Hypoplasia of the r... OMIM:253280
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin ORPHA:2907
Cockayne Syndrome
Optic atrophy, Keratoconjunctivitis sicca, Retinal dystrophy, Corneal ulceration, Band keratopath... ORPHA:191
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Corneal ulceration, Pterygium, Opacification of the corn... OMIM:263650
Familial Dysautonomia
Optic atrophy, Corneal erosion, Orthostatic hypotension, Hypertension, Corneal opacity, Heterochr... ORPHA:1764
Dysbetalipoproteinemia
Corneal arcus, Angina pectoris ORPHA:412
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Keratoconjunctivitis OMIM:269200
H Syndrome
Corneal arcus, Facial telangiectasia, Abnormal cardiovascular system physiology ORPHA:168569
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Band keratopathy, Hypertension, Choreoathetosis, Conjunctivitis, Cataract,... ORPHA:79443
Alagille Syndrome 1
Abnormal anterior chamber morphology, Band keratopathy, Chorioretinal atrophy, Microcornea, Axenf... OMIM:118450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Opacification of the corneal stroma, Retinal dysplasia OMIM:615287
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Facial telangiectasia, Pulmonic stenosis, Pulmonary arterial hypertension OMIM:602782
Sitosterolemia 1
Corneal arcus OMIM:210250
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Prominent corneal nerve fibers, ... OMIM:616564
Proteasome-Associated Autoinflammatory Syndrome 1
Punctate opacification of the cornea, Congestive heart failure, Arrhythmia, Conjunctivitis OMIM:256040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity... OMIM:175780
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Corneal neovascularization, Hypertension, Keratitis, Opacification of... OMIM:308205
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Hypovolemia ORPHA:47159
Roberts-Sc Phocomelia Syndrome
Cataract, Opacification of the corneal stroma, Corneal opacity OMIM:268300
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertension associated with pheochromocytoma, Prominent corneal nerve fibers, Hype... ORPHA:653
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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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