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
abnormal auditory brainstem response Tmem108tm1b(EUCOMM)Wtsi HOM   Early adult 1.70×10-05
abnormal cornea morphology Tmem108tm1b(EUCOMM)Wtsi HOM   Early adult 3.01×10-05
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
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
decreased lean body mass Tmem108tm1b(EUCOMM)Wtsi HOM Early adult 5.69×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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 B FCS file(s)

6 Images

Immunophenotyping

Panel A 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
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ravine Syndrome
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Ankle flexion contracture,... OMIM:617519
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Abcd Syndrome
Large for gestational age, Abnormal auditory evoked potentials, Total intestinal aganglionosis, H... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal... OMIM:109120
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morph... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morph... ORPHA:529799
Limbal Stem Cell Deficiency
Corneal scarring, Keratitis, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... ORPHA:137596
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Head titubatio... ORPHA:3240
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal opacity, Irregular astigmatism, Corneal stromal edema, ... ORPHA:293603
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Arthrogryposis, Distal, Type 2A
Hip contracture, Failure to thrive, Flexion contracture of finger, Joint contracture of the hand,... OMIM:193700
Vernal Keratoconjunctivitis
Abnormal cornea morphology, Corneal neovascularization, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Progressive Supranuclear Palsy
Dementia, Abnormal synaptic transmission, Memory impairment, Cognitive impairment ORPHA:683
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Scarring, Failure to thrive, Increased blood urea nitrogen, ... ORPHA:90321
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Cockayne Syndrome B
Sensorineural hearing impairment, Reduced subcutaneous adipose tissue, Abnormal pinna morphology,... OMIM:133540
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Cataract, Abnormal auditory evoked potentials OMIM:619260
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... ORPHA:1215
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Dentinogenesis imperfecta, Keratoconus, Keratoglobus, Atypical scarri... OMIM:229200
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Abnormal autonomic nervous system physiology, Fl... ORPHA:99027
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... ORPHA:206443
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Cockayne Syndrome A
Sensorineural hearing impairment, Reduced subcutaneous adipose tissue, Abnormal pinna morphology,... OMIM:216400
Infantile Krabbe Disease
Failure to thrive, Decreased nerve conduction velocity, Opisthotonus, Cachexia, Optic atrophy, He... ORPHA:206436
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... ORPHA:909
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Trisomy 10P
EEG with focal spikes, Flexion contracture of thumb, Small for gestational age, Low voltage EEG, ... ORPHA:171929
Mend Syndrome
Failure to thrive, Elevated 8(9)-cholestenol, Cataract, Abnormal auditory evoked potentials, Low-... ORPHA:401973
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia ORPHA:79330

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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