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 bone mineral content Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 8.85×10-05
limb grasping Tmem108tm1b(EUCOMM)Wtsi HOM   Early adult 6.95×10-05
increased circulating aspartate transaminase level Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 1.96×10-09
increased total body fat amount Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 1.06×10-05
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 1.80×10-05

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 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
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... OMIM:617519
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... 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 guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Astigmatism, Abnormality of visual evoked... OMIM:617523
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi... OMIM:616881
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Hearing impairment, Megalocornea, Umbilical hernia, Inguinal he... OMIM:614170
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Senso... OMIM:109120
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu... ORPHA:137596
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Abnormal auditory evoked pote... ORPHA:529799
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Sensorineural hearing impairment, C... ORPHA:293603
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,... OMIM:193700
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Cockayne Syndrome B
Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Small for gestational age, Failu... OMIM:133540
Cockayne Syndrome Type 1
Cataract, Optic atrophy, Foot joint contracture, Hearing impairment, Failure to thrive, Abnormali... ORPHA:90321
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Dentinogenesis imperfecta, He... OMIM:229200
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Progressive Supranuclear Palsy
Dementia, Memory impairment, Cognitive impairment, Abnormal synaptic transmission ORPHA:683
Cockayne Syndrome A
Cataract, Optic atrophy, Abnormal auditory evoked potentials, Atypical scarring of skin, Failure ... OMIM:216400
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Resting tremor, Abnormal motor ev... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... 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, Dystonia, A... ORPHA:79330
Mend Syndrome
Low-set ears, Cataract, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cho... ORPHA:401973
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... 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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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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