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
corneal deposits Cog7tm1b(EUCOMM)Hmgu HET Early adult 1.25×10-06
abnormal sinus arrhythmia Cog7tm1b(EUCOMM)Hmgu HET Early adult 8.02×10-05
embryonic lethality prior to organogenesis Cog7tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
impaired pupillary reflex Cog7tm1b(EUCOMM)Hmgu HET Early adult 1.71×10-05
preweaning lethality, complete penetrance Cog7tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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 Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

5 Images

X-ray

XRay Images Skull Lateral Orientation

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
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal erosions, 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
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Cystinosis, Adult Nonnephropathic
Corneal crystals OMIM:219750
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
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ocular Cystinosis
Corneal crystals ORPHA:411641
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Dermoids Of Cornea
Corneal opacity OMIM:304730
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Hypoplasia of the iris, Retinal dysplasia,... OMIM:310600
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Crystalline corneal dystrophy, Choriore... ORPHA:41751
Galactosialidosis
Corneal opacity, Cherry red spot of the macula ORPHA:351
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Lecithin:Cholesterol Acyltransferase Deficiency
Opacification of the corneal stroma OMIM:245900
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Intermediate Uveitis
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Vasculitis, Posterior synec... ORPHA:279914
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Morquio Syndrome C
Corneal opacity OMIM:252300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma OMIM:252700
Infantile Nephropathic Cystinosis
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals ORPHA:411629
Hepatic Lipase Deficiency
Corneal arcus, Angina pectoris OMIM:614025
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity ORPHA:2432
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Juvenile Nephropathic Cystinosis
Hypovolemia, Abnormal cornea morphology, Corneal crystals ORPHA:411634
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Mucolipidosis Iii Gamma
Opacification of the corneal stroma, Aortic regurgitation, Aortic valve stenosis OMIM:252605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Cystinosis, Nephropathic
Corneal crystals, Retinal pigment epithelial mottling, Retinopathy, Pigmentary retinopathy, Recur... OMIM:219800
Winchester Syndrome
Corneal opacity OMIM:277950
Galactosialidosis
Opacification of the corneal stroma, Conjunctival telangiectasia, Cherry red spot of the macula OMIM:256540
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Corneal ulceration, Postural hypotension with compensatory tachycard... OMIM:256800
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Optic disc coloboma, Iris coloboma OMIM:169550
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Aortic regurgitation, Hyperopic astigmatism, Retinopathy, Opacification of ... OMIM:252600
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, R... ORPHA:83461
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the ... ORPHA:137902
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma, Angina pectoris ORPHA:425
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Optic nerve dysplasia, Retinal dysplasia OMIM:615287
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Anterior Segment Dysgenesis 5
Developmental cataract, Hypoplasia of the fovea, Posterior embryotoxon, Hypoplasia of the iris, S... OMIM:604229
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Tangier Disease
Myocardial infarction, Opacification of the corneal stroma OMIM:205400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Corneal... OMIM:618815
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Pigmentary retinopathy, ... OMIM:612582
Schimke Immunoosseous Dysplasia
Hypertension, Astigmatism, Cerebral ischemia, Transient ischemic attack, Opacification of the cor... OMIM:242900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... OMIM:214110
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Opacification of the corneal stroma OMIM:215250
Autoimmune Polyendocrinopathy Type 1
Opacification of the corneal stroma, Cataract ORPHA:3453
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma OMIM:113470
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Allody... ORPHA:137596
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Peters anomaly, Optic disc coloboma, Corneal opaci... OMIM:120200
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Keratoconjunctivitis, Corneal neovasculari... OMIM:158310
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Hurler Syndrome
Retinal degeneration, Mitral regurgitation, Aortic regurgitation, Cardiomyopathy, Corneal opacity... OMIM:607014
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae OMIM:601499
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Retinal nonattachment, Reti... OMIM:221900
Pseudo-Torch Syndrome 1
Opacification of the corneal stroma, Cataract OMIM:251290
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration, Corneal opacity OMIM:607016
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Opacification of the corneal stroma, Cataract OMIM:211370
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Carpenter Syndrome 1
Opacification of the corneal stroma, Microcornea, Optic atrophy, Pulmonic stenosis OMIM:201000
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Tra... ORPHA:91495
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Opacification of the corneal stroma, Recurrent corneal erosions, Keratitis OMIM:308205
Knobloch Syndrome 1
Developmental cataract, Vitreoretinopathy, Peripapillary atrophy, Macular hypoplasia, Retinal det... OMIM:267750
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Limbal dermoid, Astigmatism, Transient ischemic attack, Opacificatio... OMIM:600268
Oligoarticular Juvenile Idiopathic Arthritis
Anterior chamber synechiae, Band keratopathy, Cataract ORPHA:85410
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corne... OMIM:214100
Farber Disease
Cherry red spot of the macula, Macular degeneration, Corneal opacity, Abnormal conjunctiva morpho... ORPHA:333
Mucopolysaccharidosis, Type Ivb
Opacification of the corneal stroma, Aortic valve stenosis OMIM:253010
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization ORPHA:163934
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Aortic regurgitation, Megalocornea, Congestive heart failure, Opacif... OMIM:252500
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Mitral stenosis OMIM:231005
Fish-Eye Disease
Corneal opacity, Angina pectoris ORPHA:79292
Cockayne Syndrome B
Hypertension, Optic atrophy, Hypoplasia of the iris, Tremor, Cataract, Pigmentary retinopathy, Op... OMIM:133540
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma, Pulmonary arterial hypertension OMIM:601559
Subaortic Stenosis--Short Stature Syndrome
Opacification of the corneal stroma, Microcornea OMIM:271960
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma ORPHA:583
Blau Syndrome
Hypertension, Pericarditis, Cystoid macular edema, Cataract, Band keratopathy, Iritis OMIM:186580
Cockayne Syndrome A
Hypertension, Optic atrophy, Retinal pigment epithelial mottling, Tremor, Cataract, Pigmentary re... OMIM:216400
Mucopolysaccharidosis Type 3
Optic atrophy, Retinal degeneration, Reduced ejection fraction, Atrioventricular block, Rod-cone ... ORPHA:581
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Telangiectasia of the skin, Telangiectasia of the oral mucos... ORPHA:79280
Mucopolysaccharidosis, Type Vi
Opacification of the corneal stroma, Cardiomyopathy OMIM:253200
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Morning glory a... OMIM:612109
Mucopolysaccharidosis, Type Iva
Opacification of the corneal stroma OMIM:253000
Galloway-Mowat Syndrome 1
Optic atrophy, Opacification of the corneal stroma, Cataract, Hypoplasia of the iris OMIM:251300
Xeroderma Pigmentosum
Telangiectasia, Optic atrophy, Conjunctival telangiectasia, Telangiectasia of the skin, Keratitis... ORPHA:910
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Lathosterolosis
Opacification of the corneal stroma, Microcornea, Cataract ORPHA:46059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, Retinal degeneration, Retinal dysplasia, Hypoplasia of the retina, Ca... OMIM:253280
Progeria-Short Stature-Pigmented Nevi Syndrome
Band keratopathy, Cataract, Supraventricular arrhythmia ORPHA:2959
Histiocytoid Cardiomyopathy
Optic atrophy, Atrial fibrillation, Ventricular tachycardia, Atrioventricular block, Supraventric... ORPHA:137675
Mosaic Trisomy 1
Opacification of the corneal stroma ORPHA:1692
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratoconjunctivitis sicca, Corneal scarring, Abnormality of corneal stroma, Corneal ulceration, ... OMIM:148210
Noonan Syndrome 9
Prominent corneal nerve fibers, Pulmonic stenosis OMIM:616559
Cutis Laxa, Autosomal Recessive, Type Iiia
Corneal arcus, Cataract OMIM:219150
Cockayne Syndrome
Keratoconjunctivitis sicca, Hypertension, Developmental cataract, Abnormality of retinal pigmenta... ORPHA:191
Hereditary Acrokeratotic Poikiloderma
Opacification of the corneal stroma, Keratoconjunctivitis, Telangiectasia of the skin ORPHA:2907
Familial Dysautonomia
Hypertension, Optic atrophy, Corneal erosion, Orthostatic hypotension, Tachycardia, Heterochromia... ORPHA:1764
Multicentric Osteolysis, Nodulosis, And Arthropathy
Corneal opacity, Peripheral opacification of the cornea OMIM:259600
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Cataract, Keratoconjunctivitis OMIM:269200
Dysbetalipoproteinemia
Corneal arcus, Angina pectoris ORPHA:412
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Corneal ulceration, Pterygium, Opacification of the corneal stroma, Axillary... OMIM:263650
Lathosterolosis
Opacification of the corneal stroma, Cataract OMIM:607330
H Syndrome
Facial telangiectasia, Abnormal cardiovascular system physiology, Corneal arcus ORPHA:168569
Alagille Syndrome 1
Posterior embryotoxon, Axenfeld anomaly, Cataract, Chorioretinal atrophy, Pigmentary retinopathy,... OMIM:118450
Pseudohypoparathyroidism Type 1A
Hypertension, Prolonged QT interval, Cataract, Band keratopathy, Conjunctivitis ORPHA:79443
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Corneal arcus, Pulmonary arterial hypertension, Pulmonic stenosis OMIM:602782
Fryns Syndrome
Opacification of the corneal stroma OMIM:229850
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral stenosis, Pulmonic stenosis, Prominent ... OMIM:616564
Proteasome-Associated Autoinflammatory Syndrome 1
Punctate opacification of the cornea, Arrhythmia, Congestive heart failure, Conjunctivitis OMIM:256040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Developmental cataract, Retinal arteriolar tortuosity, Polycoria, Hypoplasia... OMIM:175780
Proximal Renal Tubular Acidosis
Hypovolemia, Band keratopathy, Cataract ORPHA:47159
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma, Prominent corne... 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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