Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
tetraspanin 12
Synonyms:
Tm4sf12

IMPC Data Collections

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

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.

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.

Disease Similarity of
phenotypes
Matching phenotypes Source
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... OMIM:603075
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Retinal hemorrhage, Peripheral retinal degeneration OMIM:264420
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Abnormal retinal vascular morphology,... ORPHA:90050
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Vascular dilatation, Dilatation of the cerebral artery, Retinal arte... OMIM:611773
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
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, 13
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization OMIM:615439
Pseudoxanthoma Elasticum
Optic disc drusen, Retinal peau d'orange, Gastrointestinal hemorrhage, Angina pectoris, Intermitt... OMIM:264800
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Medial calcification of medium-sized arteries, Arte... OMIM:177850
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Idiopathic Aplastic Anemia
Gingival bleeding, Retinal hemorrhage, Epistaxis, Ecchymosis ORPHA:88
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration OMIM:618513
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment, Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Vasculitis in the skin, Retinal exudate, Macular edema, Retinal... OMIM:192315
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Cone dystrophy, Retinal detachment OMIM:304030
Liberfarb Syndrome
Retinal pigment epithelial mottling, Retinal degeneration, Sensorineural hearing impairment, Bone... OMIM:618889
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Restrictive cardiomyopathy, Bruising susceptibility... ORPHA:758
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis, Retinal detachment OMIM:614224
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration OMIM:600059
Late-Onset Retinal Degeneration
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits OMIM:605670
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Congenital Glaucoma
Retinal detachment ORPHA:98976
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Waldenström Macroglobulinemia
Vertigo, Gastrointestinal hemorrhage, Purpura, Epistaxis, Hearing impairment, Congestive heart fa... ORPHA:33226
Retinal Capillary Malformation
Retinal capillary hemangioma, Epiretinal membrane, Subretinal exudate, Vitreous floaters, Retinal... ORPHA:71213
Retinitis Pigmentosa 50
Retinal flecks, Attenuation of retinal blood vessels, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intracranial hemorrhage, Muscle hemorrhage, Hematochezi... ORPHA:464321
Stickler Syndrome, Type I, Nonsyndromic Ocular
Hearing impairment, Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Usher Syndrome, Type Iv
Progressive sensorineural hearing impairment, Retinal atrophy, Retinal degeneration, Sensorineura... OMIM:618144
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Irvan Syndrome
Tractional retinal detachment, Vitreous floaters, Retinal exudate, Retinal detachment, Optic atro... ORPHA:209943
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Vertigo, Retinal hemorrhage ORPHA:25
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Sensorineural hearing impairment, Retinopathy, Retinal detach... ORPHA:90654
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Chronic otitis media, Retinal hemorr... OMIM:608710
Incontinentia Pigmenti
Retinal vascular proliferation, Retinal detachment, Hypoplasia of the fovea, Optic atrophy, Retin... OMIM:308300
Cockayne Syndrome Type 3
Adult onset sensorineural hearing impairment, Retinal atrophy, Premature coronary artery atherosc... ORPHA:90324
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Telangiectasia of the skin, Congestive heart failure, Retinal ... ORPHA:464
Cataract 21, Multiple Types
Macular hypoplasia, Iris coloboma, Retinal detachment OMIM:610202
Trichinellosis
Vertigo, Central retinal artery occlusion, Abnormality of the optic nerve, Retinal hemorrhage, Ti... ORPHA:863
Stickler Syndrome, Type V
Sensorineural hearing impairment, Vitreoretinopathy, Retinal detachment OMIM:614284
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Uveal Melanoma
Vitreous hemorrhage, Abnormal fundus morphology, Inferior lens subluxation, Retinal detachment ORPHA:39044
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Low-set ears, Subretinal pigment epithelium hemorrhage, Prominent veins on trunk ORPHA:357074
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Microspherophakia With Hernia
Superior lens subluxation, Retinal detachment OMIM:157150
Optic Nerve Hypoplasia, Bilateral
Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic ner... OMIM:165550
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Papilled... ORPHA:509
Cockayne Syndrome
Progressive sensorineural hearing impairment, Abnormality of retinal pigmentation, Retinal atroph... ORPHA:191
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Generalized Arterial Calcification Of Infancy
Sensorineural hearing impairment, Pulmonary arterial hypertension, Transient ischemic attack, Ang... ORPHA:51608
Norrie Disease
Retinal dysplasia, Sensorineural hearing impairment, Retinal detachment, Optic atrophy, Retinal fold OMIM:310600
Ectopia Lentis Et Pupillae
Ectopia lentis, Retinal detachment OMIM:225200
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Optic ner... OMIM:120200
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Coloboma, Retinal detachment OMIM:615113
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Hearing impairment OMIM:619074
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma, Hyphema, Retinal fold OMIM:221900
Oculo-Palato-Cerebral Syndrome
Thickened helices, Remnants of the hyaloid vascular system, Retinal detachment, Macrotia ORPHA:2714
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Low-set ears, Optic nerve hypoplasia,... OMIM:614643
Retinoblastoma
Vitreous hemorrhage, Retinoblastoma, Retinal calcification, Vitritis OMIM:180200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Raynaud phenomenon, Hypertension, ... ORPHA:247691
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Bilateral vestibular Schwannoma, Retinal hamartoma, Epir... ORPHA:637
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Abnormal bleeding, Gastrointestinal hemorrhage ORPHA:99826
Norrie Disease
Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, Macrotia, Abnormal vi... ORPHA:649
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Abnormal lymphatic vessel mor... ORPHA:464329
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Asymmetry of the ears, Anteverted ears, Patent ductus ar... OMIM:300166
Tubulointerstitial Nephritis And Uveitis Syndrome
Abnormality of retinal pigmentation, Cystoid macular edema, Papilledema, Choroidal neovasculariza... ORPHA:91500
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Uplifted earlobe, Retinal coloboma, Pulmonary artery sling, Recurrent otitis media, Patent ductus... ORPHA:261552

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 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) Targeting vectors
Tspan12tm45162(L1L2_Bact_P) Targeting vectors

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