Gene Summary

Name:
gap junction protein, alpha 10
Synonyms:
Cx59,  Cx57,  connexin-57,  Cx-57

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 seminal vesicle morphology Gja10em2(IMPC)Mbp HOM Early adult 0.00
abnormal epididymis morphology Gja10em2(IMPC)Mbp HOM Early adult 0.00
absent testes Gja10em2(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Gja10em2(IMPC)Mbp HOM Early adult 0.00
absent epididymis Gja10em2(IMPC)Mbp HOM Early adult 0.00
small seminal vesicle Gja10em2(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Gja10 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 Gja10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Retinal flecks, Cone/cone-rod dystrophy, Macular atr... OMIM:603649
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Retinitis Pigmentosa 48
Macular degeneration, Visual impairment, Rod-cone dystrophy OMIM:613827
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Dyschromatopsia, Peripheral retinal atrophy, Central scotoma... OMIM:136550
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Metamorphopsia, Choroideremia, Visual field de... ORPHA:1243
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular dystrophy, Macular atrophy, Visual impairment OMIM:600110
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Progressive visual loss, Drusen, Macular scar OMIM:615439
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy OMIM:617111
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Chorioreti... OMIM:605670
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Subretinal fluid, Reduced visual acuity, Macular dystrophy, Visual ... OMIM:153700
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Visual impairment, Abnormality of retina... ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Retinal Cone Dystrophy 1
Color vision defect, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy, Progr... OMIM:180020
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration, Reduced visual acuity OMIM:616118
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Hypopigmentation of the fundus, Retinal pigment epithelial mottli... ORPHA:75377
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype OMIM:305700
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Persistent Placoid Maculopathy
Choroidal neovascularization, Scintillating scotoma, Retinal pigment epithelial mottling, Abnorma... ORPHA:97341
Optic Atrophy 9
Optic atrophy, Reduced visual acuity, Red-green dyschromatopsia, Paracentral scotoma, Optic disc ... OMIM:616289
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Chorioretinal dystrophy, Retinal detachment, Myopia, Visual impairment OMIM:600790
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Visual impairment, Retinal degeneration OMIM:618513
Retinitis Pigmentosa 31
Visual field defect, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Ro... OMIM:609923
Macular Degeneration, Atrophic, X-Linked
Reduced visual acuity, Macular degeneration OMIM:300834
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal ... OMIM:605750
Optic Atrophy 6
Optic atrophy, Retinal degeneration, Red-green dyschromatopsia, Visual impairment, Photophobia OMIM:258500
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Epiretinal membrane, Peripapillary ... OMIM:616544
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:612712
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Bone spicule pigmentation of the retin... OMIM:613809
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Photophobia, Hyperautofluorescent macular lesion, Attenuation... OMIM:619531
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... OMIM:608161
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Visual field defect, Reduced visual acuity, Macular dystrophy, ... OMIM:153840
Cone-Rod Dystrophy 13
Color vision defect, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual acuity, Photop... OMIM:608194
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Color vision defect, Retinal nonattachment, Abnormality of visi... ORPHA:99000
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Pericentral scotoma, Par... OMIM:609021
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Visual impairment, Tractional retinal detachment, R... OMIM:613310
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615725
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Blind-spot enl... ORPHA:179
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Stargardt Disease
Color vision defect, Abnormality of macular pigmentation, Macular degeneration, Retinal pigment e... ORPHA:827
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Cleft Lip-Retinopathy Syndrome
Retinopathy, Visual impairment, Abnormality of retinal pigmentation ORPHA:1995
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... OMIM:613194
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Macular Dystrophy, Patterned, 1
Dark choroid, Choroidal neovascularization, Pattern dystrophy of the retina, Metamorphopsia, Yell... OMIM:169150
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis OMIM:614840
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:613758
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystr... OMIM:610381
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Progressive Cone Dystrophy
Photophobia, Color vision defect, Visual impairment, Abnormality of retinal pigmentation ORPHA:1871
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Visual impairment, Central scotoma, Con... OMIM:300476
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Ring scotoma, Reduced visual acuity, Bone spicule ... OMIM:607476
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... ORPHA:209943
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:613582
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Atte... OMIM:613750
Cone Dystrophy 3
Cone/cone-rod dystrophy, Reduced visual acuity, Progressive visual loss, Macular atrophy, Photoph... OMIM:602093
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Visual field defect, Ret... OMIM:613731
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Reduced visual acuity,... OMIM:616188
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Optic disc pallor,... OMIM:601718
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Rod... OMIM:613862
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ro... OMIM:613428
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Stickler Syndrome, Type I, Nonsyndromic Ocular
Myopia, Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Rod-cone dystrophy, Nyctalopia OMIM:614494
Cone-Rod Dystrophy 17
Central scotoma, Cone/cone-rod dystrophy, Optic disc pallor, Photophobia, Visual impairment OMIM:615163
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Retinitis Pigmentosa 96
Retinal thinning, Constriction of peripheral visual field, Reduced visual acuity, Bone spicule pi... OMIM:620228
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, High myopia, Central scotoma, Reduced visual acuity, Red-green dyschromat... OMIM:616170
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Nyctalopia, Rod-co... OMIM:614180
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, P... OMIM:617123
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Pho... OMIM:600852
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Cryptorchidism OMIM:618110
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Ambiguous geni... OMIM:615542
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Hyperautofluorescent macular lesion, Retinal degeneratio... OMIM:618144
Blue Cone Monochromatism
Photophobia, Blue cone monochromacy, Visual impairment, Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:620102
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... OMIM:264420
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Night Blindness, Congenital Stationary, Type 1G
Constriction of peripheral visual field, Rod-cone dystrophy, Optic disc pallor, Visual impairment... OMIM:616389
Retinitis Pigmentosa 78
Cystoid macular edema, Visual field defect, Reduced visual acuity, Nyctalopia, Photopsia, Optic d... OMIM:617433
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Constriction of peripheral visual field, Cone/cone-rod dystr... OMIM:610478
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Progressive visual loss, Bone spicule pigmentati... OMIM:617781
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Blindn... ORPHA:90050
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Prog... OMIM:204500
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Vitreous floaters, Retinal detachment, Mildly reduced visual acuity, Peripheral vitr... OMIM:614292
Cone-Rod Dystrophy 21
Reduced visual acuity, Nyctalopia, Macular atrophy, Photophobia, Retinal dystrophy OMIM:616502
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Constriction of peripheral visual field, Retinal degeneration, Hype... OMIM:267760
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Reduced visual... OMIM:618826
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Metamorphopsia, Blurred vision, Visual field defe... ORPHA:209956
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Reduc... OMIM:614500
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Optic Atrophy 5
Optic atrophy, Slow decrease in visual acuity, Constriction of peripheral visual field, Abnormali... OMIM:610708
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Reduced visual acuity,... OMIM:608850
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Retinitis Pigmentosa 92
Pigmentary retinopathy, Constriction of peripheral visual field, Paracentral scotoma, Nyctalopia,... OMIM:619614
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, Rod... OMIM:606068
Retinitis Pigmentosa 2
Pigmentary retinopathy, Constriction of peripheral visual field, Bull's eye maculopathy, High myo... OMIM:312600
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias OMIM:264600
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Cone-Rod Dystrophy 3
Color vision defect, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye mac... OMIM:604116
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... OMIM:618889
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:617304
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
High myopia, Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule pigmentatio... OMIM:618220
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Diplopia, Rod-cone dystrophy, Myopia, Visual impairment, ... ORPHA:75382
Myopia 28, Autosomal Recessive
High myopia, Retinal detachment OMIM:619781
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Myopia, Retinal detachment, Retinopathy ORPHA:90654
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Rod-con... ORPHA:284454
Ophthalmoplegia, External, And Myopia
Myopia, Chorioretinal degeneration, Retinal degeneration OMIM:311000
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone sp... OMIM:613617
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Ambiguous genitalia, Uro... ORPHA:753
Retinitis Pigmentosa 23
Color vision defect, Severely reduced visual acuity, Constriction of peripheral visual field, Att... OMIM:300424
Bornholm Eye Disease
Protanopia, High myopia, Abnormality of retinal pigmentation, Amblyopia, Deuteranopia, Optic nerv... OMIM:300843
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Reduced visual... OMIM:618195
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Peripheral vi... OMIM:612095
Retinitis Pigmentosa 10
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Bull's eye maculop... OMIM:180105
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Visual loss, Retinopathy, Abnormal poste... ORPHA:94058
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... OMIM:133780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Cho... OMIM:251270
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
46,Xx Sex Reversal 4
Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias... OMIM:617480
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripheral visual ... OMIM:613983
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:614858
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Peripheral visual field loss, Chorio... OMIM:618697
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Nyct... OMIM:613767
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, B... OMIM:193235
Stickler Syndrome, Type V
High myopia, Retinal detachment, Vitreoretinopathy OMIM:614284
Retinitis Pigmentosa 51
Macular degeneration, High myopia, Attenuation of retinal blood vessels, Reduced visual acuity, B... OMIM:613464
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Severely reduced visual acuity, Epiretinal me... ORPHA:891
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Morning Glory Disc Anomaly
Amblyopia, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism OMIM:202150
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Bone sp... OMIM:610283
Retinitis Pigmentosa 83
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:618173
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Chorioretinal atrophy, Progressive night bl... OMIM:210370
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Bone spicule pig... OMIM:615233
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Dyschromatopsia, Retinal atrophy, Photophobia, Visual impairment, Hemeralopia OMIM:617236
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Blindness... OMIM:605549
Ring Chromosome Y Syndrome
Male hypogonadism, Abnormality of the male genitalia, Bifid scrotum, Gonadal dysgenesis, Unilater... ORPHA:261529
Cone-Rod Dystrophy 6
Dyschromatopsia, Attenuation of retinal blood vessels, Peripheral visual field loss, Chorioretina... OMIM:601777
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal best... ORPHA:67042
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Constriction of peripheral visual field, Re... OMIM:611131
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Visual field defect, Optic disc pal... OMIM:613581
Severe Early-Childhood-Onset Retinal Dystrophy
Reduced visual acuity, Retinal detachment, Retinal pigment epithelial atrophy, Optic disc pallor,... ORPHA:364055
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Photophobia, Constriction of peripheral visual field... OMIM:613843
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone ... OMIM:613810
Retinitis Pigmentosa 97
Macular degeneration, Reduced visual acuity, Amblyopia, Nyctalopia, Rod-cone dystrophy OMIM:620422
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Birdshot Chorioretinopathy
Vitreous floaters, Retinal pigment epithelial atrophy, Visual impairment, Abnormal chorioretinal ... OMIM:605808
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Retinal arteriolar constriction, Dyschromatopsia, Ab... OMIM:193220
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, H... OMIM:619649
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cataract 21, Multiple Types
Macular hypoplasia, High myopia, Retinal detachment OMIM:610202
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidism, Male pseudohermaph... OMIM:312300
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Hydrocele testis OMIM:618832
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Blindness, Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:614324
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Peripheral visual field loss, Abnormality of... ORPHA:791
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Visual loss, Blurred vision, Retinal vasculitis, Retinal detach... OMIM:107320
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Ectopia Lentis Et Pupillae
High myopia, Retinal detachment OMIM:225200
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm, Retinal coloboma OMIM:615113
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Von Hippel-Lindau Syndrome
Pheochromocytoma, Epididymal cyst, Pancreatic cysts, Neoplasm of the pancreas, Papillary cystaden... OMIM:193300
Norrie Disease
Optic atrophy, Blindness, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia, Retinal detachment, Optic disc coloboma ORPHA:83461
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... ORPHA:2232
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Pancreatic atrophy, Atretic vas deferens, Epididymal cyst, Hypoplasia of t... OMIM:137920
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Epididymal cyst, Pancreatic cysts, Neopl... ORPHA:892
Leopard Syndrome 1
Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Micropenis, Hypospadias OMIM:151100
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Floating-Harbor Syndrome
Varicocele, Glandular hypospadias, Cryptorchidism, Epididymal cyst, Hypospadias OMIM:136140
Floating-Harbor Syndrome
Precocious puberty, Varicocele, Cryptorchidism, Epididymal cyst, Hypospadias ORPHA:2044
Pmm2-Cdg
Hyperplastic labia majora, Increased circulating prolactin concentration, Decreased testicular si... ORPHA:79318

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 Gja10

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 Gja10.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Structural, functional, and mechanistic insights uncover the fundamental role of orphan connexin-62 in platelets. Blood (February 2021) Gja10em2(IMPC)Mbp PMC7885822

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gja10em2(IMPC)Mbp Indel Mice, Tissue

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