Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
teneurin transmembrane protein 2
Synonyms:
2610040L17Rik,  9330187F13Rik,  Ten-m2,  Odz2,  D3Bwg1534e

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 Tenm2 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 Tenm2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Stargardt Disease
Yellow/white lesions of the macula, Nyctalopia, Abnormal foveal morphology, Macular degeneration,... ORPHA:827
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Abnormal electroretinogram, Subretinal fluid... OMIM:153700
Macular Dystrophy, Vitelliform, 4
Vitelliform-like macular lesions, Moderately reduced visual acuity, Decreased Arden ratio of elec... OMIM:616151
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Macular degeneration, Reduced visual acuity, Optic disc ... OMIM:618195
Retinitis Pigmentosa 39
Visual field defect, Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood... OMIM:613809
Usher Syndrome, Type I
Rod-cone dystrophy, Abnormal electroretinogram, Visual loss, Undetectable electroretinogram OMIM:276900
Retinitis Pigmentosa 31
Visual field defect, Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood... OMIM:609923
Retinal Cone Dystrophy 1
Photophobia, Retinal degeneration, Color vision defect, Abnormal electroretinogram, Cone/cone-rod... OMIM:180020
Tritanopia
Color vision defect, Abnormal light-adapted electroretinogram, Tritanomaly, Dyschromatopsia OMIM:190900
X-Linked Retinoschisis
Abnormal electroretinogram, Abnormality of vision, Retinoschisis ORPHA:792
Bothnia Retinal Dystrophy
Ring scotoma, Retinal degeneration, Macular degeneration, Increased OCT-measured foveal thickness... ORPHA:85128
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Undetectable elec... OMIM:610599
Optic Atrophy 1
Centrocecal scotoma, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked potentials... OMIM:165500
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Prolonged somatosensory evoked potentials, Visua... OMIM:616648
Retinitis Pigmentosa 19
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, A... OMIM:601718
Retinitis Pigmentosa 54
Nyctalopia, Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood vessels,... OMIM:613428
Progressive Cone Dystrophy
Photophobia, Abnormality of retinal pigmentation, Color vision defect, Abnormal electroretinogram... ORPHA:1871
Retinoschisis Of Fovea
Hypermetropia, Foveoschisis, Nyctalopia, Rod-cone dystrophy, Abnormal electroretinogram, Visual l... OMIM:268080
Choroideremia
Abnormality of retinal pigmentation, Nyctalopia, Abnormal electroretinogram, Visual impairment, P... ORPHA:180
Cone-Rod Dystrophy 22
Photophobia, Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent ... OMIM:619531
Retinitis Pigmentosa 50
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Retinal detachment, Abnormal electroretino... OMIM:613194
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Abnormal electroretinogram OMIM:165510
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Abnormal electroretinogram, Optic atrophy, Visual impairment... ORPHA:1574
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor, Decreased light- a... OMIM:618513
Sorsby Fundus Dystrophy
Macular dystrophy, Abnormal electroretinogram, Blindness OMIM:136900
Retinitis Pigmentosa 32
Photophobia, Photoreceptor layer loss on macular OCT, Nyctalopia, Retinal degeneration, Reduced v... OMIM:609913
Retinitis Pigmentosa 27
Blindness, Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary ch... OMIM:613750
Blue Cone Monochromatism
Photophobia, Abnormality of retinal pigmentation, Blue cone monochromacy, Abnormal electroretinog... ORPHA:16
Retinitis Pigmentosa 7
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretinal atrophy, A... OMIM:608133
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Occult Macular Dystrophy
Slow decrease in visual acuity, Abnormal multifocal electroretinogram OMIM:613587
Canavan Disease
Blindness, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Optic at... ORPHA:141
Cone-Rod Dystrophy 13
Photophobia, Macular degeneration, Color vision defect, Reduced visual acuity, Undetectable light... OMIM:608194
Bothnia Retinal Dystrophy
Abnormal electroretinogram, Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Cone-Rod Dystrophy 12
Abnormal light- and dark-adapted electroretinogram, Nyctalopia, Color vision defect, Reduced visu... OMIM:612657
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Visual loss, Cone/cone-rod dystrophy, Abnormal light-adapted ... OMIM:304030
Bietti Crystalline Dystrophy
Subretinal deposits, Nyctalopia, Cystoid macular edema, Constriction of peripheral visual field, ... ORPHA:41751
Retinoschisis 1, X-Linked, Juvenile
Hypermetropia, Vitreous hemorrhage, Electronegative electroretinogram, Retinal degeneration, Reti... OMIM:312700
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Slow decrease in visual acuity, Nyctalopia, Absent reti... ORPHA:75377
Retinitis Pigmentosa 4
Visual field defect, Nyctalopia, Rod-cone dystrophy, Abnormal electroretinogram, Pigmentary retin... OMIM:613731
Ă…land Islands Eye Disease
Color vision defect, Reduced visual acuity, Abnormal electroretinogram, Hypoplasia of the fovea, ... ORPHA:178333
Cone-Rod Dystrophy, X-Linked, 3
Photophobia, Absent foveal reflex, Abnormal light- and dark-adapted electroretinogram, Color visi... OMIM:300476
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Centrocecal scotoma, Tritanomaly, Abnormal amplitude of pattern reversal visual evoked potentials... OMIM:125250
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, ... OMIM:120970
Retinitis Pigmentosa 47
Nyctalopia, Rod-cone dystrophy, Chorioretinal atrophy, Pigmentary retinopathy, Decreased light- a... OMIM:613758
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormal electroretinogram, Visual impairment, Abnormality of retinal pigmentation ORPHA:2246
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Abnormality of visu... ORPHA:1215
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Visual field defect, Congenital stationary night blindne... OMIM:610445
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation, Abnormal electrooculogram, Nyctalopia OMIM:179840
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials, Hypoplasia of the pons, Amblyopia OMIM:617523
Congenital Stationary Night Blindness
Hypermetropia, Congenital stationary night blindness with normal fundus, Abnormality of retinal p... ORPHA:215
Achromatopsia
Color vision test abnormality, Hypermetropia, Photophobia, Absent foveal reflex, Color vision def... ORPHA:49382
Retinitis Pigmentosa 93
Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, Undetectable ... OMIM:619845
Leber Congenital Amaurosis 14
Photophobia, Nyctalopia, Congenital blindness, Rod-cone dystrophy, Reduced visual acuity, Retinal... OMIM:613341
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Adult-onset night blindn... OMIM:605670
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Constriction of peripheral visual field,... OMIM:615780
Retinitis Pigmentosa 26
Rod-cone dystrophy, Constriction of peripheral visual field, Undetectable light- and dark-adapted... OMIM:608380
Oculocutaneous Albinism Type 1
Photophobia, Reduced visual acuity, Abnormality of visual evoked potentials, Hypoplasia of the fo... ORPHA:352731
Birdshot Chorioretinopathy
Photophobia, Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macul... ORPHA:179
Retinitis Pigmentosa 1
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, U... OMIM:180100
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Abnormality of pattern visual evoked potentials, T2 hypointense thalamus, Undetectable electroret... ORPHA:1947
Retinitis Pigmentosa 61
Nyctalopia, Rod-cone dystrophy, Undetectable light- and dark-adapted electroretinogram, Attenuati... OMIM:614180
Leber Congenital Amaurosis 9
Photophobia, Hypermetropia, Ultra-low vision with retained light perception, Nyctalopia, Color vi... OMIM:608553
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Reduced visual acuity, Retinal flecks, Retinal pigment epithelial atrophy, Decreas... OMIM:611809
Acute Zonal Occult Outer Retinopathy
Constriction of peripheral visual field, Retinal pigment epithelial mottling, Abnormal electroret... ORPHA:284454
Retinitis Pigmentosa 37
Photophobia, Cystoid macular degeneration, Nyctalopia, Tritanomaly, Rod-cone dystrophy, Red-green... OMIM:611131
Microphthalmia, Isolated 5
Photophobia, Hypermetropia, Foveoschisis, Abnormal light- and dark-adapted electroretinogram, Nyc... OMIM:611040
Familial Drusen
Photophobia, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality o... ORPHA:75376
Retinitis Pigmentosa 44
Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of retinal blood vessels... OMIM:613769
Retinitis Pigmentosa 12
High hypermetropia, Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Attenuation of retinal... OMIM:600105
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Slow decrease in visual acuity, Color vision defect, Abnormality of visual evoked potentials, Dec... OMIM:601152
Leber Congenital Amaurosis 4
Nyctalopia, Reduced visual acuity, Undetectable light- and dark-adapted electroretinogram, Attenu... OMIM:604393
Peripheral Cone Dystrophy
Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Optic atrophy, Opt... OMIM:609021
Retinitis Pigmentosa 40
Abnormal light- and dark-adapted electroretinogram, Nyctalopia, Rod-cone dystrophy, Attenuation o... OMIM:613801
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Constriction of peripheral visual field, Patchy atrophy of the retinal pigmen... ORPHA:436245
Mohr-Tranebjaerg Syndrome
Photophobia, Absent brainstem auditory responses, Color vision defect, Abnormality of visual evok... ORPHA:52368
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Visual impairment, Abnormal retinal vascular morphology, Ret... ORPHA:1852
Choroideremia
Granular macular appearance, Choroideremia, Nyctalopia, Constriction of peripheral visual field, ... OMIM:303100
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram, Myopia ORPHA:2971
Retinitis Pigmentosa 9
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Macular edema, Undetecta... OMIM:180104
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Nyctalopia, Macular degeneration, Constriction of perip... OMIM:600138
Retinitis Pigmentosa 41
Nyctalopia, Rod-cone dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Pigme... OMIM:612095
Retinitis Pigmentosa 51
Photophobia, Abnormal light- and dark-adapted electroretinogram, Nyctalopia, Rod-cone dystrophy, ... OMIM:613464
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Visual impairment, ... ORPHA:96
Retinitis Pigmentosa 43
Nyctalopia, Rod-cone dystrophy, Abnormal electroretinogram, Attenuation of retinal blood vessels,... OMIM:613810
Leber Congenital Amaurosis 5
Hypermetropia, High hypermetropia, Visual loss, Undetectable electroretinogram, Visual impairment OMIM:604537
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Congenital stationary night blindness, Abnormal electroretinogram, Myopia OMIM:613216
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dy... OMIM:180210
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal fold, Retinal hol... OMIM:605750
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Choroideremia, Color vision defect, Vitelliform-like macular lesions, Retina... ORPHA:99000
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Opti... ORPHA:485421
Irvan Syndrome
Photophobia, Reduced visual acuity, Blurred vision, Retinal detachment, Macular edema, Optic atro... ORPHA:209943
Retinitis Pigmentosa 33
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial ... OMIM:610359
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Myopia, Visual impairment, Chorioretinal dystrophy OMIM:600790
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Visual loss, Optic atrophy, Undetectable visual evoked potentials, Visual impairment, Progressive... OMIM:601338
Retinitis Pigmentosa 58
Abnormal light- and dark-adapted electroretinogram, Nyctalopia, Rod-cone dystrophy, Macular degen... OMIM:613617
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Abnormal electroretinogram, Visual impairment, Decreased... ORPHA:1933
Retinal Cone Dystrophy 4
Photophobia, Electronegative electroretinogram, Constriction of peripheral visual field, Retinal ... OMIM:610478
Cone-Rod Dystrophy 3
Electronegative electroretinogram, Color vision defect, Attenuation of retinal blood vessels, Pig... OMIM:604116
Retinitis Pigmentosa 13
Cystoid macular edema, Rod-cone dystrophy, Nyctalopia, Retinal degeneration, Constriction of peri... OMIM:600059
Central Retinal Vein Occlusion
Electronegative electroretinogram, Macular degeneration, Cystoid macular edema, Papilledema, Blur... ORPHA:411527
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Hypermetropia, Abnormality of visual evoked potentials, Abnormal electroretinogram, Optic atrophy... OMIM:616875
Ceroid Lipofuscinosis, Neuronal, 2
Progressive visual loss, Retinal degeneration, Undetectable electroretinogram OMIM:204500
Retinitis Pigmentosa 25
Photophobia, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Chorioretin... OMIM:602772
Friedreich Ataxia
Visual field defect, Decreased sensory nerve conduction velocity, Reduced visual acuity, Abnormal... OMIM:229300
Leber Congenital Amaurosis With Early-Onset Deafness
Reduced visual acuity, High hypermetropia, Retinal degeneration OMIM:617879
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Leber Congenital Amaurosis 2
Photophobia, Absent foveal reflex, Nyctalopia, Reduced visual acuity, Undetectable light- and dar... OMIM:204100
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Abnormal electroretinogram, Retinal d... OMIM:193235
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Abnormal electroretinogram, Nonarteritic anterior ischem... OMIM:125310
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy,... OMIM:616188
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormal electroretinogram, Myopia, Abnormality of retinal pigmentation ORPHA:2743
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Retinal degeneration, Reduced visual acuity... ORPHA:168491
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials, Blindness, Decreased nerve conduction vel... OMIM:245200
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Amblyopia, High myopia, Protanopia, ... OMIM:300843
Retinitis Pigmentosa 14
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Retinal arteriolar const... OMIM:600132
Oculocutaneous Albinism Type 1A
Photophobia, Ocular albinism, Abnormality of visual evoked potentials, Hypoplasia of the fovea, A... ORPHA:79431
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Attenuation of retinal blood vessels, Undetectable electroretino... OMIM:613826
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visu... OMIM:256600
Primary Non-Essential Cutis Verticis Gyrata
Reduced visual acuity, Abnormality of pattern visual evoked potentials ORPHA:357225
Retinitis Pigmentosa 10
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, U... OMIM:180105
Leber Congenital Amaurosis 8
High hypermetropia, Reduced visual acuity, Chorioretinal atrophy, Nummular pigmentation of the fu... OMIM:613835
Ceroid Lipofuscinosis, Neuronal, 1
Retinal degeneration, Macular degeneration, Undetectable electroretinogram, Optic atrophy, Progre... OMIM:256730
Retinal Cone Dystrophy 3A
Photophobia, Nyctalopia, Abnormal light-adapted flicker electroretinogram, Reduced visual acuity,... OMIM:610024
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Atrophy/Degeneration affecting the brainstem, Abnormal b... ORPHA:98755
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Reduced visual acuity, Undetectab... OMIM:204200
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal auditory e... OMIM:601455
Retinitis Pigmentosa 46
Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of retinal blood vessels... OMIM:612572
Retinitis Pigmentosa 70
Optic disc pallor, Rod-cone dystrophy, Nyctalopia, Retinal degeneration OMIM:615922
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Abnormal brainstem morphology, Chorioretinal coloboma ORPHA:163961
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Fusion of the left and right thalami, Hypoplasia of the pons, Agenesis o... OMIM:617542
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Abnormal electroretinogram, Retinal degeneration OMIM:616211
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Blindness, Optic nerve hypoplasia, Retinal detachment, Hypoplasia of t... ORPHA:370959
Retinitis Punctata Albescens
Photophobia, Progressive visual field defects, Absent foveal reflex, Abnormal light- and dark-ada... ORPHA:52427
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Optic atrophy OMIM:619057
Late-Infantile/Juvenile Krabbe Disease
Blindness, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Visual l... ORPHA:206443
Usher Syndrome, Type Iv
Ring scotoma, Nyctalopia, Retinal degeneration, Constriction of peripheral visual field, Retinal ... OMIM:618144
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Retinal degeneration, Orthostatic hypotension, A... ORPHA:2822
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Retinal degeneration, Retinal pigment epithelial mottling, Attenuati... ORPHA:364055
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Abnormality of visual evoked potentials, Optic atro... ORPHA:35069
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Abnormal motor neuron morphology OMIM:613724
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Myopia, Cerebral visual impairment ORPHA:480898
Leber Congenital Amaurosis 15
Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of peripheral visual field, Color v... OMIM:613843
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Retinal degeneration, Pigmentary retinopathy, Visual loss,... ORPHA:79264
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Constriction of peripheral visual field, Chorioretinal atrophy, High myopia... OMIM:210370
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
High myopia, Abnormality of visual evoked potentials OMIM:614457
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Micro Syndrome
Abnormality of retinal pigmentation, Retinal coloboma, Abnormality of visual evoked potentials, O... ORPHA:2510
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Hypoplasia of the brainstem OMIM:619072
Oligocone Trichromacy
Photophobia, Abnormal electroretinogram ORPHA:75378
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Visual field defect, Abnormal brainstem MRI signal intensity, Optic atrophy, Abn... ORPHA:254930
Retinitis Pigmentosa
Photophobia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Abnormal ... ORPHA:791
Infantile Krabbe Disease
Photophobia, Decreased nerve conduction velocity, Cherry red spot of the macula, Abnormality of v... ORPHA:206436
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal electroretinogram, Abnormal optic disc morphology, ... ORPHA:65
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Hypermetropia, Nyctalopia, Retinal degeneration, Constriction of pe... OMIM:267760
Intellectual Developmental Disorder With Cardiac Arrhythmia
Abnormal electroretinogram, Retinal degeneration OMIM:617173
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Visual field defect, Abnormality of pattern visual evoked potentials, Retinal degeneration, Nycta... ORPHA:166035
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Reduced visual acuity, Abnormality of visual evoked potentials, Decreased nerve co... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Reduced visual acuity, Abnormality of visual evoked potentials, Decreased nerve co... ORPHA:309263
Enhanced S-Cone Syndrome
Hemeralopia, Nyctalopia, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Undetectable e... OMIM:268100
White-Sutton Syndrome
Hypermetropia, Rod-cone dystrophy, Optic nerve hypoplasia, Abnormality of visual evoked potential... OMIM:616364
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Reduced visual acuity, Falcifor... OMIM:305390
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Redu... ORPHA:891
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive visual ... OMIM:264420
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials OMIM:260565
Panhypophysitis
Progressive visual field defects, Adrenocorticotropic hormone deficiency, Reduced circulating pro... ORPHA:95513
Cln5 Disease
Abnormality of visual evoked potentials, Visual impairment ORPHA:228360
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Undetectable visual evoked potentials, Optic disc pallor, Aplasia/Hypoplasia o... ORPHA:423479
Achromatopsia 2
Hemeralopia, Photophobia, Absent foveal reflex, Nyctalopia, Dull foveal reflex, Reduced visual ac... OMIM:216900
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:619051
Cach Syndrome
Abnormal pons morphology, Optic neuritis, T2 hypointense thalamus, Atrophy/Degeneration affecting... ORPHA:135
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology ORPHA:397725
Adenohypophysitis
Progressive visual field defects, Adrenocorticotropic hormone deficiency, Reduced circulating pro... ORPHA:95512
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Reduced visual a... OMIM:133780
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials, Decreased response to growth hormone stimul... ORPHA:79323
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Photophobia, Abnormality of retinal pigmentation, Nyctalopia, Retinopathy, Chorioretinal atrophy,... ORPHA:5
Mohr-Tranebjaerg Syndrome
Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Abnormal electroreti... OMIM:304700
Usher Syndrome Type 3
High hypermetropia, Nyctalopia, Abnormal electroretinogram, Hemianopia, Visual loss, Scotoma ORPHA:231183
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Orthostatic hypotension, Abnormality of visual evoked potentials, Abnormal autonom... OMIM:231550
Chromosome Xp11.3 Deletion Syndrome
Blindness, Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Moderate myop... OMIM:300578
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunction, Reduce... ORPHA:309271
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal autonomic nervous system physiology, Optic nerve hypoplasia, Abnormal best corrected vis... ORPHA:300570
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Nyctalopia, Abnormal retinal vascular morphology, Abnormal e... ORPHA:1390
Usher Syndrome Type 1
High hypermetropia, Nyctalopia, Abnormal electroretinogram, Hemianopia, Visual loss, Scotoma ORPHA:231169
Leber Congenital Amaurosis 7
Photophobia, Visual impairment, Undetectable electroretinogram OMIM:613829
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Hermansky-Pudlak Syndrome
Photophobia, Ocular albinism, Abnormality of visual evoked potentials, Amblyopia, Abnormality of ... ORPHA:79430
Leigh Syndrome With Cardiomyopathy
Retinopathy, Abnormal brainstem morphology, Optic atrophy, Abnormality of thalamus morphology, Vi... ORPHA:70474
Van Den Bosch Syndrome
High myopia, Abnormal electroretinogram, Choroideremia ORPHA:3417
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal brainstem morphology, Abnormal brainstem MRI signal ... ORPHA:88619
Joubert Syndrome 25
Abnormal electroretinogram, Molar tooth sign on MRI OMIM:616781
Combined Oxidative Phosphorylation Defect Type 23
Visual impairment, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity ORPHA:444013
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Abnormal electroretinogram, Pigmentary retinopathy, Retin... OMIM:608629
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Hypermetropia, Hemianopia, Myopia ORPHA:404440
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Abnormal electroretinogram, Visual impairment ORPHA:1154
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum ORPHA:557003
Posterior Column Ataxia With Retinitis Pigmentosa
Ring scotoma, Nyctalopia, Rod-cone dystrophy, Decreased sensory nerve conduction velocity, Attenu... OMIM:609033
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Visual loss, Cerebral visual impairment OMIM:203700
Rhombencephalosynapsis
Abnormality of vision, Fusion of the left and right thalami, Septo-optic dysplasia, Aganglionic m... ORPHA:59315
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal retinal vascular morphology, Decreased nerve conduction velocity, Hype... ORPHA:909
Joubert Syndrome 22
Molar tooth sign on MRI, Retinal dysplasia, Undetectable electroretinogram OMIM:615665
Joubert Syndrome 28
Optic disc pallor, Molar tooth sign on MRI, Pigmentary retinopathy OMIM:617121
Warburg Micro Syndrome 2
Optic atrophy, Undetectable visual evoked potentials OMIM:614225
Hydranencephaly
Atrophic pituitary gland, Chorioretinal atrophy, Optic nerve hypoplasia, Dysgenesis of the thalam... ORPHA:2177
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Abnormal electroretinogram, Myopia ORPHA:1369
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials ORPHA:79330
Cockayne Syndrome A
Hypermetropia, Decreased nerve conduction velocity, Retinal pigment epithelial mottling, Abnormal... OMIM:216400
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Undetectable visual evoked potentials, Optic disc pallor, Facial palsy, Visual imp... OMIM:259720
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, Paucity of anterior horn motor n... ORPHA:79139
Leigh Syndrome With Nephrotic Syndrome
Undetectable visual evoked potentials, Cerebral visual impairment ORPHA:255249
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Pontocerebellar atrophy, Abnormality of visual evoked potentials, Abnormal brainste... ORPHA:258
Joubert Syndrome 20
Abnormal retinal morphology, Retinopathy, Molar tooth sign on MRI OMIM:614970
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Meningioma
Enlarged pituitary gland, Slow decrease in visual acuity, Reduced circulating prolactin concentra... ORPHA:2495
Joubert Syndrome 15
Retinopathy, Molar tooth sign on MRI, Retinal dystrophy OMIM:614464
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Molar tooth sign on MRI, Optic disc hypoplasia, Hypoplasia ... OMIM:619306
Acute Disseminated Encephalomyelitis
Optic neuritis, Abnormal thalamic MRI signal intensity, Visual loss, Abnormal brainstem MRI signa... ORPHA:83597
Cockayne Syndrome B
Hypermetropia, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Pigm... OMIM:133540
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Blindness, Retinal degeneration, Thickened superior cereb... OMIM:610688
Aceruloplasminemia
Abnormality of retinal pigmentation, Abnormal thalamic MRI signal intensity, Retinal degeneration... ORPHA:48818
Joubert Syndrome 30
Reduced visual acuity, Molar tooth sign on MRI, Retinal dystrophy OMIM:617622
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Visual impairment, Decreased nerve conduction velocity ORPHA:512
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormal electroretinogram, Abnormality of retinal pigmentation ORPHA:1173
Meckel Syndrome 13
Retinopathy, Molar tooth sign on MRI OMIM:617562
Craniopharyngioma
Progressive visual field defects, Enlarged pituitary gland, Slow decrease in visual acuity, Abnor... ORPHA:54595
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Optic atrophy, Abnormal thalamic MRI signal intensity, A... ORPHA:506
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology ORPHA:435638
Joubert Syndrome 9
Molar tooth sign on MRI, Retinal dystrophy, Cerebral visual impairment OMIM:612285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Enlarged flash visual evoked potentials, Retinal degeneration, Undetect... OMIM:253280
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Progressive visual loss ORPHA:2959
Neuroferritinopathy
Abnormal thalamic MRI signal intensity, Iron accumulation in substantia nigra, T2 hypointense tha... ORPHA:157846
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Usher Syndrome
Visual field defect, Abnormality of retinal pigmentation, High hypermetropia, Nyctalopia, Abnorma... ORPHA:886
Mucolipidosis Type Iv
Photophobia, Retinopathy, Abnormal electroretinogram, Abnormality of retinal pigmentation ORPHA:578
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials, Visual impairment ORPHA:667
Tay-Sachs Disease
Blindness, Cherry red spot of the macula, Optic atrophy, Abnormal thalamic MRI signal intensity, ... ORPHA:845
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Arthrogryposis, Distal, Type 5
Hypermetropia, Abnormal electroretinogram, Abnormality of retinal pigmentation OMIM:108145
Septopreoptic Holoprosencephaly
Central diabetes insipidus, Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain m... ORPHA:280195
Oculocerebral Hypopigmentation Syndrome, Preus Type
Photophobia, Abnormality of the diencephalon, Abnormal brainstem morphology, Ocular albinism ORPHA:2720
Usher Syndrome Type 2
Nyctalopia, Abnormal electroretinogram, Hemianopia, Visual loss, Scotoma, Myopia ORPHA:231178
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic neuropathy, Undetectable visual evoked potentials, Optic disc pallor, Blindness OMIM:252010
Peroxisome Biogenesis Disorder 3B
Rod-cone dystrophy, Abnormal electroretinogram, Retinal dystrophy OMIM:266510
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529799
Bickerstaff Brainstem Encephalitis
Diplopia, Abnormality of the autonomic nervous system, Decreased motor nerve conduction velocity,... ORPHA:79138
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Congenital stationary night blindness, Abnormal hypothalamus ... ORPHA:314621
Leptin Receptor Deficiency
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... OMIM:614963
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Maternal Uniparental Disomy Of Chromosome 6
Progressive visual loss, Abnormal electroretinogram, Rod-cone dystrophy ORPHA:96181
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Microgastria-Limb Reduction Defects Association
Fusion of the left and right thalami, Agenesis of corpus callosum, Aganglionic megacolon OMIM:156810
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Retinal hemorrhage, Vitreous hemorrhage ORPHA:464321
Holoprosencephaly 7
Partial agenesis of the corpus callosum, Panhypopituitarism, Fusion of the left and right thalami... OMIM:610828
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Joubert Syndrome 8
Optic disc pallor, Molar tooth sign on MRI, Pigmentary retinopathy OMIM:612291
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Visual loss, Abnormal midbrain m... ORPHA:206448
Amoebiasis Due To Free-Living Amoebae
Photophobia, Abnormal pons morphology, Abnormal hypothalamus morphology, Abnormal brainstem MRI s... ORPHA:68
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Abnormal electroretinogram, Retinal degeneration ORPHA:542306
Arima Syndrome
Hypoplasia of the brainstem, Chorioretinal coloboma, Retinal dystrophy, Undetectable electroretin... OMIM:243910
Slc35A2-Cdg
Atrophy/Degeneration affecting the brainstem, Lateral ventricle dilatation, Elevated circulating ... ORPHA:356961
Machado-Joseph Disease
Abnormal electrooculogram, Abnormal autonomic nervous system physiology, Diplopia OMIM:109150
Bardet-Biedl Syndrome
Abnormal electroretinogram, Pigmentary retinopathy ORPHA:110
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Abnormal electroretinogram OMIM:614195
Joubert Syndrome 38
Hypermetropia, Decreased response to growth hormone stimulation test, Small pituitary gland, Ecto... OMIM:619476
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Joubert Syndrome 5
Congenital blindness, Rod-cone dystrophy, Retinal coloboma, Reduced visual acuity, Thickened supe... OMIM:610188
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic Adhesion, Agenesis of corpus callosum OMIM:618929
Cockayne Syndrome
Photophobia, Hypermetropia, Abnormality of retinal pigmentation, Retinal degeneration, Retinal ar... ORPHA:191
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Abnormal electroretinogram, Pigmentary retinopathy OMIM:214100
Norrie Disease
Remnants of the hyaloid vascular system, Abnormal retinal vascular morphology, Retinal detachment... ORPHA:649
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Abnormal electroretinogram, Visual impairment, Abnormality o... ORPHA:636
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Abnormal midbrain morphology, Hypoplasia of the brainstem ORPHA:444072
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Ab... ORPHA:293987
Williams Syndrome
High hypermetropia, Abnormality of the diencephalon, Retinal arteriolar tortuosity, Visual impair... ORPHA:904
Degcags Syndrome
Abnormal electroretinogram, Agenesis of corpus callosum OMIM:619488

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 Tenm2

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 Tenm2.

No publications found that use IMPC mice or data for Tenm2.

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MGI Allele Allele Type Produced
Tenm2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tenm2tm39115(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tenm2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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