Gene Summary

Name:
transmembrane protein 50B
Synonyms:
B230114J08Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased cornea thickness Tmem50btm1b(EUCOMM)Wtsi HOM   Early adult 3.38×10-05
decreased grip strength Tmem50btm1b(EUCOMM)Wtsi HOM Early adult 1.32×10-06
abnormal vitreous body morphology Tmem50btm1b(EUCOMM)Wtsi HOM   Early adult 1.19×10-06

Download data as:  TSV  XLS

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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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
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
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Leber Congenital Amaurosis 4
Keratoconus, Optic disc pallor, Macular atrophy OMIM:604393
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Optic disc pallor, Pigmentary retinopathy OMIM:204100
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Keratoglobus OMIM:229200
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Cataract, Pigmentary retinopathy OMIM:204000
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Keratoconus, Cataract, Optic atrophy ORPHA:791
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly, Optic nerve aplasia, Op... OMIM:120200
Brittle Cornea Syndrome
Corneal scarring, Corneal dystrophy, Keratoglobus, Retinal detachment, Decreased corneal thicknes... ORPHA:90354
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Keratoconus, Astigmatism, Keratoglobus OMIM:108145
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Abnormality of the optic disc, Decreased corneal thickness ORPHA:293967
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Microtriplication 11Q24.1
Keratoconus ORPHA:289522
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic nerve hypoplasia, Optic atrophy ORPHA:401777
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Retinal degeneration ORPHA:542306
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Conjunctivitis OMIM:242150
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Cata... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Nail-Patella Syndrome
Microcornea, Cataract, Antecubital pterygium, Lester's sign, Keratoconus, Microphakia OMIM:161200
Angelman Syndrome
Astigmatism, Optic disc pallor, Iris hypopigmentation, Keratoconus, Optic atrophy ORPHA:72
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca... ORPHA:2363
Alagille Syndrome
Abnormal pupil morphology, Keratoconus, Corneal dystrophy ORPHA:52
Gapo Syndrome
Keratoconus, Optic atrophy ORPHA:2067
Warburg-Cinotti Syndrome
Corneal neovascularization, Symblepharon, Decreased corneal thickness, Limbal stem cell deficiency OMIM:618175
Costello Syndrome
Keratoconus ORPHA:3071
Gapo Syndrome
Keratoconus, Optic atrophy OMIM:230740
Arterial Tortuosity Syndrome
Keratoconus OMIM:208050
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Retinal detachment, Microcornea OMIM:225400
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Norrie Disease
Hypoplasia of the iris, Sclerocornea, Optic atrophy, Cataract, Corneal opacity, Retinal detachmen... ORPHA:649
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Cortical cataract, Posterior subcapsular cataract ORPHA:637
Neuroocular Syndrome
Microcornea, Cataract, Iris coloboma, Blue irides, Remnants of the hyaloid vascular system, Peter... OMIM:619539
Microphthalmia, Syndromic 2
Developmental cataract, Microcornea, Retinal detachment, Remnants of the hyaloid vascular system,... OMIM:300166
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus OMIM:130050
Vascular Ehlers-Danlos Syndrome
Abnormal pupil morphology, Keratoconus 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.

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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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