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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
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... 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 arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea OMIM:217300
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... OMIM:614170
Leber Congenital Amaurosis 4
Keratoconus, Macular atrophy, Optic disc pallor OMIM:604393
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy OMIM:613835
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Optic disc pallor OMIM:204100
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Keratoglobus OMIM:229200
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Leber Congenital Amaurosis 1
Cataract, Optic disc drusen, Pigmentary retinopathy, Keratoconus OMIM:204000
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Keratoconus, Macular sc... OMIM:608553
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Dermatitis, Atopic
Cataract, Keratoconus, Conjunctivitis OMIM:603165
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Retinal detachment, Corneal dystrophy, Decreased corneal thickness... ORPHA:90354
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc colobom... OMIM:120200
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Astigmatism, Keratoglobus OMIM:108145
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Decreased corneal thickness, Abnormal optic disc morphology ORPHA:293967
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Retinitis Pigmentosa
Optic atrophy, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Keratocon... ORPHA:791
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Keratoconus 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
Keratoconus, Conjunctivitis OMIM:242150
Angelman Syndrome
Optic atrophy, Astigmatism, Keratoconus, Iris hypopigmentation, Optic disc pallor ORPHA:72
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Nail-Patella Syndrome
Microphakia, Keratoconus, Microcornea, Antecubital pterygium, Cataract, Lester's sign OMIM:161200
Alagille Syndrome
Keratoconus, Corneal dystrophy, Abnormal pupil morphology ORPHA:52
Gapo Syndrome
Optic atrophy, Keratoconus ORPHA:2067
Warburg-Cinotti Syndrome
Limbal stem cell deficiency, Corneal neovascularization, Symblepharon, Decreased corneal thickness OMIM:618175
Costello Syndrome
Keratoconus ORPHA:3071
Lacrimoauriculodentodigital Syndrome
Recurrent corneal erosions, Corneal neovascularization, Corneal ulceration, Limbal stem cell defi... 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
Retinal detachment, Keratoconus, Microcornea OMIM:225400
Down Syndrome
Cataract, Keratoconus ORPHA:870
Atelis Syndrome 2
Developmental cataract, Remnants of the hyaloid vascular system OMIM:620185
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... ORPHA:649
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... OMIM:619539
Full Nf2-Related Schwannomatosis
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system ORPHA:637
Microphthalmia, Syndromic 2
Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmental cataract,... OMIM:300166
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma 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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