Gene Summary

Name:
ring finger protein 113A1
Synonyms:
2810428C21Rik

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 sternum morphology Rnf113a1em1(IMPC)Tcp HOM Early adult 0.00
abnormal retina blood vessel morphology Rnf113a1em1(IMPC)Tcp HOM Early adult 9.71×10-05

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

109 Images

Eye Morphology

Images Slit Lamp

96 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Rnf113a1 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 Rnf113a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Trichothiodystrophy
Clubbing, Retinal degeneration, Macular degeneration ORPHA:33364
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953

The table below shows human diseases predicted to be associated to Rnf113a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Vitreous hemorrhage, Retinal infarction,... OMIM:180080
Eales Disease
Subhyaloid hemorrhage, Vitritis, Retinal vasculitis, Retinal thinning, Rhegmatogenous retinal det... ORPHA:40923
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Sternum, Premature Obliteration Of Sutures Of
Short sternum OMIM:184800
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Retinal neovascularization, Macular edema, Avascular necrosis of the ca... ORPHA:247691
Craniorachischisis
Bifid sternum ORPHA:63260
Coffin-Lowry Syndrome
Narrow iliac wing, Coxa valga, Short metacarpal, Tapered finger, Hyperextensibility of the finger... OMIM:303600
Trichothiodystrophy
Clubbing, Retinal degeneration, Macular degeneration ORPHA:33364
Trichothiodystrophy 5, Nonphotosensitive
Retinal dystrophy, Optic nerve hypoplasia OMIM:300953

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 Rnf113a1

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 Rnf113a1.

No publications found that use IMPC mice or data for Rnf113a1.

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MGI Allele Allele Type Produced
Rnf113a1tm444676(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rnf113a1em1(IMPC)Tcp Intra-exon deletion Mice
Rnf113a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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