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Gene: Col8a1 MGI:88463

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Gene Summary

Name:
collagen, type VIII, alpha 1
Synonyms:
Col8a-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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
Colon  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Vas deferens  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)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (1 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node 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)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Col8a1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Col8a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Dermoids Of Cornea
Corneal opacity OMIM:304730
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Leber Congenital Amaurosis 4
Keratoconus OMIM:604393
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Phacoanaphylactic Uveitis
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Pseudophakia, Corn... ORPHA:209959
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Decreased corneal thickness ORPHA:90354
Arthrogryposis, Distal, Type 5
Keratoconus, Keratoglobus, Astigmatism OMIM:108145
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Leber Congenital Amaurosis 9
Keratoconus OMIM:608553
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness ORPHA:293967
Alport Syndrome
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Recurrent corneal erosio... ORPHA:63
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus ORPHA:542306
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus ORPHA:401777
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Abnormal corneal end... ORPHA:364055
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Sympathetic Ophthalmia
Anterior chamber cells, Cataract, Corneal keratic precipitates, Posterior synechiae of the anteri... ORPHA:79098
Nail-Patella Syndrome
Keratoconus, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign OMIM:161200
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Warburg-Cinotti Syndrome
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness OMIM:618175
Costello Syndrome
Keratoconus ORPHA:3071
Angelman Syndrome
Keratoconus, Astigmatism, Iris hypopigmentation ORPHA:72
Gapo Syndrome
Keratoconus ORPHA:2067
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Gapo Syndrome
Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Keratoconus OMIM:225400
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286

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 Col8a1

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 Col8a1.

No publications found that use IMPC mice or data for Col8a1.

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
Col8a1tm1e.1(KOMP)Mbp Promoter excision from Targeted, non-conditional allele Mice, Tissue
Col8a1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col8a1tm1e(KOMP)Mbp Targeted, non-conditional allele Mice, ES Cells

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