Gene Summary

Name:
mediator complex subunit 27
Synonyms:
Crsp8,  1500015J03Rik,  D2Ertd434e,  2310042P07Rik

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 blood vessel morphology Med27em1(IMPC)Bay HET Early adult 8.14×10-05
preweaning lethality, complete penetrance Med27em1(IMPC)Bay HOM   Early adult 0.00

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

VIP of left fundus

15 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

Eye Morphology

VIP of right fundus

15 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Med27 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 Med27 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
OMIM:619286

The table below shows human diseases predicted to be associated to Med27 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, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Macular edema, Abnormal retinal vascular mo... ORPHA:247691
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
OMIM:619286

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 Med27

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 Med27.

No publications found that use IMPC mice or data for Med27.

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MGI Allele Allele Type Produced
Med27tm231513(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Med27tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Med27em1(IMPC)Bay Exon Deletion Mice

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