Gene Summary

Name:
collagen, type XXVIII, alpha 1
Synonyms:
N/A

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
abnormal retina vasculature morphology Col28a1em1(IMPC)Tcp HOM Early adult 3.16×10-05
abnormal retina blood vessel morphology Col28a1em1(IMPC)Tcp HOM Early adult 2.51×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

107 Images

Eye Morphology

Images Slit Lamp

96 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Col28a1 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 Col28a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w... ORPHA:247691

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 Col28a1

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 Col28a1.

No publications found that use IMPC mice or data for Col28a1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Col28a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Col28a1em1(IMPC)Tcp Exon Deletion Mice
Col28a1tm192138(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Col28a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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