Gene Summary

Name:
transmembrane protein 108
Synonyms:
B130017P16Rik

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 circulating aspartate transaminase level Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 1.96×10-09
limb grasping Tmem108tm1b(EUCOMM)Wtsi HOM   Early adult 6.95×10-05
decreased lean body mass Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 5.69×10-06
abnormal cornea morphology Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 6.29×10-05
abnormal auditory brainstem response Tmem108tm1b(EUCOMM)Wtsi HOM   Early adult 1.70×10-05
increased total body fat amount Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 1.06×10-05
increased bone mineral content Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 8.85×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Tmem108 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 Tmem108 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Astigmatism, Abnormal auditory evoked potentials, Optic ... OMIM:617523
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Claw hand deformity, Sensorineural hearing impairment, Abnor... OMIM:601455
Abcd Syndrome
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito... OMIM:600501
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... OMIM:616881
Brittle Cornea Syndrome 2
Inguinal hernia, Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Hearing im... OMIM:614170
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Abnormal... OMIM:109120
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hype... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hype... ORPHA:529799
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... ORPHA:171673
Neurotrophic Keratopathy
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... ORPHA:137596
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Absent brain... ORPHA:3240
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr... ORPHA:293603
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Arthrogryposis, Distal, Type 2A
Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Elbow flexion contract... OMIM:193700
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Cockayne Syndrome Type 1
Optic atrophy, Scarring, Foot joint contracture, Tremor, Absent brainstem auditory responses, Inc... ORPHA:90321
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Cockayne Syndrome B
Optic atrophy, Severe failure to thrive, Decreased nerve conduction velocity, Sensorineural heari... OMIM:133540
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia, Keratoconus, Corneal dystrophy, Corneal guttata, Ectopia pupillae OMIM:609141
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Vernal Keratoconjunctivitis
Scarring, Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punc... ORPHA:70476
Brittle Cornea Syndrome 1
Keratoglobus, Keratoconus, Decreased corneal thickness, Abnormal cornea morphology, Hearing impai... OMIM:229200
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Tremor, Abnormal auditory evoked poten... ORPHA:99027
Progressive Supranuclear Palsy
Abnormal synaptic transmission, Memory impairment, Dementia, Cognitive impairment ORPHA:683
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Cerebrotendinous Xanthomatosis
Osteopenia, Optic atrophy, Decreased nerve conduction velocity, Juvenile cataract, Resting tremor... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Torticollis, Short-segment aganglioni... OMIM:609136
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ... ORPHA:401973
Trisomy 10P
EEG with burst suppression, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked pote... ORPHA:171929

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 Tmem108

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 Tmem108.

No publications found that use IMPC mice or data for Tmem108.

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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
Tmem108tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmem108tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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