Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

tetraspanin 12

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Tspan12 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 Tspan12 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tspan12 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Lacunar stroke, Raynaud phenome... OMIM:611773
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Pseudoxanthoma Elasticum
Choroidal neovascularization, Macular degeneration, Restrictive cardiomyopathy, Gastrointestinal ... OMIM:264800
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
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, 11
Macular degeneration OMIM:611953
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Vitreo... ORPHA:90050
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Macular degeneration, Medial calcification of large arteries, Angioi... OMIM:177850
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Hearing impairment, Epiretinal membrane, Trac... ORPHA:891
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal exudate, Macular edema, Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Te... OMIM:192315
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Fetal Cytomegalovirus Syndrome
Optic atrophy, Petechiae, Chorioretinitis, Sensorineural hearing impairment, Retinal hemorrhage ORPHA:294
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Idiopathic Aplastic Anemia
Retinal hemorrhage, Epistaxis, Gingival bleeding, Ecchymosis ORPHA:88
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Eales Disease
Epistaxis, Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epir... ORPHA:40923
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Abnormal cerebr... ORPHA:758
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Palpitations, Abnormal bleeding ORPHA:86839
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Hearing impairment, Conges... ORPHA:33226
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Usher Syndrome, Type Iv
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hyperautofluorescent ... OMIM:618144
Leber Congenital Amaurosis With Early-Onset Deafness
Sensorineural hearing impairment, Peripapillary atrophy, Retinal pigment epithelial mottling, Ret... OMIM:617879
Sympathetic Ophthalmia
Macular edema, Hearing impairment, Vitreous floaters, Tinnitus, Papilledema, Retinal detachment, ... ORPHA:79098
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Hyphema, Epiretinal membrane, ... ORPHA:71213
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Rift Valley Fever
Gingival bleeding, Macular edema, Abnormal bleeding, Vertigo, Retinal vasculitis, Retinitis, Hema... ORPHA:319251
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme... OMIM:609049
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Vertigo, Subdural hemorrhage ORPHA:25
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage, Chronic otitis m... OMIM:608710
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Premature coro... ORPHA:90324
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Hearing abnormality, Retinal vascular proliferation,... ORPHA:464
Abnormal optic nerve morphology, Central retinal artery occlusion, Vertigo, Tinnitus, Retinal hem... ORPHA:863
Incontinentia Pigmenti
Optic atrophy, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal detachment, Retin... OMIM:308300
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Retinal arterial tortuosity, Vitreous hemorrhage, Posteriorly rotated ea... OMIM:620371
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage, Low-set ears, Prominent veins on trunk ORPHA:357074
Hyphema, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Retinobla... ORPHA:790
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... ORPHA:99827
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Hypotension, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis, Optic neuritis, Pap... ORPHA:509
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment, Abnormal fundus morphology ORPHA:39044
Cockayne Syndrome
Vascular calcification, Optic atrophy, Pigmentary retinopathy, Retinal arteriolar constriction, P... ORPHA:191
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Generalized Arterial Calcification Of Infancy
Hearing impairment, Medial calcification of large arteries, Sensorineural hearing impairment, Cor... ORPHA:51608
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Hemorrhage of the eye, Tractional retinal detachme... ORPHA:91495
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Hypopigmentation of the fundus, Retinal arteriolar tortuosity, ... OMIM:175780
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Retinal fold, Iris coloboma OMIM:221900
Oculo-Palato-Cerebral Syndrome
Thickened helices, Retinal detachment, Remnants of the hyaloid vascular system, Macrotia ORPHA:2714
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Low-set ears, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysplasia, Mic... OMIM:614643
Vitreous hemorrhage, Retinal calcification, Retinoblastoma, Vitritis OMIM:180200
Atelis Syndrome 2
Low-set ears, Protruding ear, Vitreous hemorrhage, Remnants of the hyaloid vascular system, Supra... OMIM:620185
Phacoanaphylactic Uveitis
Macular edema, Vitreoretinopathy, Hyphema, Tractional retinal detachment, Cystoid macular edema, ... ORPHA:209959
Full Nf2-Related Schwannomatosis
Abnormal optic nerve morphology, Bilateral vestibular schwannoma, Epiretinal membrane, Vestibular... ORPHA:637
Norrie Disease
Optic atrophy, Abnormal helix morphology, Macrotia, Venous insufficiency, Sensorineural hearing i... ORPHA:649
Microphthalmia, Syndromic 2
Aortic valve stenosis, Anteverted ears, Cupped ear, Asymmetry of the ears, Sensorineural hearing ... OMIM:300166
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Choroidal neovascularization, Macular edema, Abnormality of retinal pigmentat... ORPHA:91500
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... ORPHA:464329
Acromelic Frontonasal Dysostosis
Low-set ears, Dilation of Virchow-Robin spaces, Remnants of the hyaloid vascular system, Persiste... OMIM:603671
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Lujo Hemorrhagic Fever
Hypotension, Shock, Excessive bleeding after a venipuncture, Ecchymosis, Bradycardia, Myocarditis... ORPHA:319213
Neuroocular Syndrome 1
Low-set ears, Cupped ear, Anterior creases of earlobe, Hypoplasia of the fovea, Remnants of the h... OMIM:619539
Holoprosencephaly 2
Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... ORPHA:99826
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Optic atrophy, Hyphema, Retinal coloboma, Tetralogy of Fallot, Recurrent o... ORPHA:261552


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 Tspan12

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 Tspan12.

No publications found that use IMPC mice or data for Tspan12.

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MGI Allele Allele Type Produced
Tspan12tm45162(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tspan12em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Tspan12tm45162(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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