Gene Summary

Name:
protein phosphatase 2, regulatory subunit B', delta
Synonyms:
TEG-271,  Tex271,  B'delta

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 morphology Ppp2r5dem2(IMPC)Marc HOM   Early adult 5.37×10-05
abnormal vocalization Ppp2r5dem2(IMPC)Marc HOM   Early adult 1.20×10-05

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.

Phenotype associated images not available

Human diseases caused by Ppp2r5d 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 Ppp2r5d by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia ORPHA:457279
Mental Retardation, Autosomal Dominant 35
OMIM:616355

The table below shows human diseases predicted to be associated to Ppp2r5d by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
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
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Retinal Detachment
Retinal detachment OMIM:180050
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... OMIM:616468
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Complex Regional Pain Syndrome
Somatic sensory dysfunction, Dysesthesia, Allodynia, Trophic changes related to pain ORPHA:83452
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia ORPHA:457279
Mental Retardation, Autosomal Dominant 35
OMIM:616355

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 Ppp2r5d

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 Ppp2r5d.

No publications found that use IMPC mice or data for Ppp2r5d.

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MGI Allele Allele Type Produced
Ppp2r5dtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppp2r5dem2(IMPC)Marc Deletion Mice
Ppp2r5dtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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