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Gene: Tmem50b MGI:1925225

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Gene Summary

Name:
transmembrane protein 50B
Synonyms:
B230114J08Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
increased cornea thickness Tmem50btm1b(EUCOMM)Wtsi HOM Early adult 3.38×10-05
abnormal vitreous body morphology Tmem50btm1b(EUCOMM)Wtsi HOM Early adult 1.19×10-06
decreased grip strength Tmem50btm1b(EUCOMM)Wtsi HOM Early adult 1.32×10-06

Download data as:  TSV  XLS

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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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Tmem50b 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 Tmem50b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Corneal Dystrophy, Congenital Stromal
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Leber Congenital Amaurosis 4
Optic disc pallor, Keratoconus, Macular atrophy OMIM:604393
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Macular coloboma OMIM:613835
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Leber Congenital Amaurosis 2
Optic disc pallor, Pigmentary retinopathy, Keratoconus, Cataract OMIM:204100
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen OMIM:204000
Leber Congenital Amaurosis 9
Optic atrophy, Keratoconus, Retinal pigment epithelial mottling, Macular coloboma, Bone spicule p... OMIM:608553
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Dermatitis, Atopic
Conjunctivitis, Keratoconus, Cataract OMIM:603165
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Keratoconus Posticus Circumscriptus
Central posterior corneal opacity, Keratoconus OMIM:244600
Brittle Cornea Syndrome
Corneal scarring, Retinal detachment, Decreased corneal thickness, Corneal dystrophy, Corneal ero... ORPHA:90354
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system... OMIM:120200
Arthrogryposis, Distal, Type 5
Astigmatism, Keratoconus, Abnormality of retinal pigmentation, Keratoglobus OMIM:108145
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormal optic disc morphology, Decreased corneal thickness ORPHA:293967
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Retinitis Pigmentosa
Optic atrophy, Keratoconus, Posterior subcapsular cataract, Abnormality of retinal pigmentation, ... ORPHA:791
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Keratoconus, Optic nerve hypoplasia ORPHA:401777
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Retinal degeneration ORPHA:542306
Greig Cephalopolysyndactyly Syndrome
Keratoconus OMIM:175700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Keratoconus OMIM:242150
Angelman Syndrome
Iris hypopigmentation, Keratoconus, Optic atrophy, Astigmatism, Optic disc pallor ORPHA:72
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lester's sign, Antecubital pterygium, Microphakia OMIM:161200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Gapo Syndrome
Optic atrophy, Keratoconus ORPHA:2067
Warburg-Cinotti Syndrome
Symblepharon, Corneal neovascularization, Limbal stem cell deficiency, Decreased corneal thickness OMIM:618175
Costello Syndrome
Keratoconus ORPHA:3071
Lacrimoauriculodentodigital Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Recurrent corneal erosions, Keratoconjun... ORPHA:2363
Gapo Syndrome
Optic atrophy, Keratoconus, Shallow anterior chamber, Megalocornea OMIM:230740
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Microcornea, Retinal detachment OMIM:225400
Down Syndrome
Keratoconus, Cataract ORPHA:870
Atelis Syndrome 2
Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Norrie Disease
Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin... ORPHA:649
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Blue irides, Remnants of the hyaloid vascular system, Stel... OMIM:619539
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system ORPHA:637
Microphthalmia, Syndromic 2
Microcornea, Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract,... OMIM:300166
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Holoprosencephaly 2
Iris coloboma, Remnants of the hyaloid vascular system OMIM:157170
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Vascular Ehlers-Danlos Syndrome
Keratoconus, Abnormal pupil morphology ORPHA:286

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 Tmem50b

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 Tmem50b.

No publications found that use IMPC mice or data for Tmem50b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tmem50btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmem50btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Tmem50btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tmem50btm40880(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tmem50btm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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