Gene Summary

Name:
G protein-coupled receptor 108
Synonyms:
1810015L19Rik

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 eye anterior chamber depth Gpr108tm1b(EUCOMM)Hmgu HOM   Early adult 6.03×10-10
short tibia Gpr108tm1b(EUCOMM)Hmgu HOM Early adult 3.54×10-08
abnormal auditory brainstem response Gpr108tm1b(EUCOMM)Hmgu HOM   Early adult 1.81×10-05

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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

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Gpr108 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 Gpr108 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Tal... OMIM:601382
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:618944
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
Pes cavus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of ... ORPHA:320401
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Low-set ears, Micrognath... OMIM:201170
Adult Acute Respiratory Distress Syndrome
Sepsis, Pancreatitis, Increased circulating interleukin 6 concentration, Abnormal circulating int... ORPHA:70578
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, Salmonella osteomyelitis, Lymphade... ORPHA:319552
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Acute Lung Injury
Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr... ORPHA:178320
Tibial Hemimelia
Absent tibia OMIM:275220
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Orofaciodigital Syndrome Iv
Short finger, Low-set ears, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognath... OMIM:258860
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Megalocornea, Mesomelia, Radial bowing, Opacificat... OMIM:164900
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... ORPHA:79106
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talipes equinovar... OMIM:119800
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Abnormal au... OMIM:601559
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Hypsarrhythmia, Sensorineura... ORPHA:356961
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Optic atrophy, Fibular ... ORPHA:1106
Microcephaly-Micromelia Syndrome
Oligodactyly, Low-set ears, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... OMIM:251230
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Broad finger, Astigmatism, Abnormal auditory evoked potentials, Abnormality of visual evoked pote... OMIM:617523
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
Charcot-Marie-Tooth Disease, Type 4D
Pes cavus, Decreased nerve conduction velocity, Hammertoe, Sensorineural hearing impairment, Abno... OMIM:601455
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Rieger anomaly, Abnormally... OMIM:109120
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit... OMIM:617519
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Recurrent otitis media, Flared met... ORPHA:2502
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:158061
Charcot-Marie-Tooth Disease, Type 4C
Pes cavus, Delayed brainstem auditory evoked response conduction time, Hammertoe, Abnormal crania... OMIM:601596
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Sensorineural hearing impairment, Abnormal pinn... OMIM:607143
Sweet Syndrome
Increased circulating interleukin 6 concentration, Panniculitis, Myositis, Recurrent infections, ... ORPHA:3243
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:540
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Pes cavus, Temporal optic disc pallor, Sensorineural hearing impairment, Absent br... ORPHA:1215
Bent Bone Dysplasia Syndrome 2
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... OMIM:620076
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ... OMIM:600785
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Femoral-Facial Syndrome
Abnormal fibula morphology, Microtia, Low-set ears, Abnormal pelvic girdle bone morphology, Coxa ... ORPHA:1988
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... OMIM:602111
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Aplasia/Hypop... ORPHA:3320
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... OMIM:613091
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low... ORPHA:314795
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... OMIM:616300
Omodysplasia 1
Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Axillary pte... OMIM:258315
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Orofaciodigital Syndrome Type 2
Protruding ear, Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger s... ORPHA:2751
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Catar... OMIM:619260
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Abnormal circulating interleukin concentration, Arthritis, Synovitis ORPHA:85435
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... ORPHA:85410
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Microtia, Abnormal pelvic girdle bone morphology, Finger a... ORPHA:1788
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, A... OMIM:617925
Arthrogryposis, Distal, Type 2A
Rocker bottom foot, Flexion contracture of toe, Shoulder flexion contracture, Ulnar deviation of ... OMIM:193700
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Microtia... ORPHA:96334
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Short finger, Recurrent otitis media, Rhizomelia, Flared metaphysis... OMIM:608940
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... OMIM:211350
Late-Infantile/Juvenile Krabbe Disease
Pes cavus, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction... ORPHA:206443
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor... OMIM:263520
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation ORPHA:37202
Fibrochondrogenesis 1
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Abn... OMIM:228520
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal conjunctiva morphology, Abnormal auditory evoked poten... ORPHA:529799
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:542323
Omodysplasia 2
Fibular hypoplasia, Recurrent otitis media, Clinodactyly of the 5th finger, Dislocated radial hea... OMIM:164745
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Optic nerve hypoplasia, Low-set ears, Mesomelic leg shortening, Syndactyly, ... OMIM:603671
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda... ORPHA:958
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Recurrent abscess formation, Panhypogammaglo... ORPHA:79124
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones OMIM:114000
Cerebrotendinous Xanthomatosis
Optic atrophy, Pes cavus, Abnormal femur morphology, Abnormal tibia morphology, Decreased nerve c... ORPHA:909
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Hypoplastic ischia, Microtia, first degree, Mesom... OMIM:260660
Trisomy 10P
Abnormal foot morphology, Ulnar deviated club hands, EEG with burst suppression, Low voltage EEG,... ORPHA:171929
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... OMIM:600383
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Mend Syndrome
2-3 toe syndactyly, Abnormal auditory evoked potentials, Low-set ears, Hand polydactyly, Long fin... ORPHA:401973
Charcot-Marie-Tooth Disease Type 1F
Pes cavus, Distal lower limb muscle weakness, Decreased nerve conduction velocity, Sensorineural ... ORPHA:101085
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hyp... OMIM:274000
Adult Krabbe Disease
Pes cavus, EEG abnormality, Delayed brainstem auditory evoked response conduction time ORPHA:206448
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Cockayne Syndrome Type 1
Optic atrophy, Foot joint contracture, Absent brainstem auditory responses, Hearing impairment, M... ORPHA:90321
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... ORPHA:140
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Cockayne Syndrome B
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Hypoplastic iliac wing, M... OMIM:133540
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... OMIM:200980
Occipital Horn Syndrome
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... ORPHA:198
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Pes cavus, Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment aganglionic ... OMIM:609136
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Cockayne Syndrome A
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Hypoplastic iliac wing, S... OMIM:216400
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... ORPHA:3144
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Hydrolethalus Syndrome 1
Upper limb undergrowth, Abnormal pinna morphology, Postaxial hand polydactyly, Low-set ears, Dupl... OMIM:236680
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... OMIM:114290
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... OMIM:208500
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... OMIM:304120
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Gastritis, Increased circulating antibody ... ORPHA:3261
Orofaciodigital Syndrome Type 4
Absent crus of helix, Finger syndactyly, Microtia, third degree, Postaxial hand polydactyly, Spli... ORPHA:2753
Charge Syndrome
Hypoplasia of the ulna, Mixed hearing impairment, Cupped ear, Lop ear, Microtia, Sensorineural he... OMIM:214800
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... OMIM:300373
Aregenerative Anemia
Abnormal circulating interleukin concentration ORPHA:101096
Cranioectodermal Dysplasia 1
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Protruding ear, Broad toe, Triphalang... OMIM:218330
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Low-set ears, Micrognathia, Mesomelia, P... OMIM:619297
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Mixed hearing impairment, Low-set, posteriorly rotated ears,... ORPHA:444077

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 Gpr108

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 Gpr108.

No publications found that use IMPC mice or data for Gpr108.

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
Gpr108tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Gpr108tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gpr108tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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