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 auditory brainstem response Gpr108tm1b(EUCOMM)Hmgu HOM   Early adult 1.81×10-05
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

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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
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology OMIM:188800
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Tibia, Absence Of, With Congenital Deafness
Hearing impairment, Absent tibia OMIM:275230
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity, Tal... OMIM:601382
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Increased laxity of ankles, Shor... ORPHA:93323
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Cupped ear, Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna... OMIM:119100
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Low-set ears, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodacty... OMIM:201170
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Short tibia, Opacification of the corneal stroma, Bowing of the long bones... OMIM:601559
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Tibial Hemimelia
Absent tibia OMIM:275220
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Low-set ears, Hand polydactyly, Mi... OMIM:258860
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Sensorineural hearing impairment, Facial palsy, Ankle flexion contracture, Absen... OMIM:617519
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Megal... OMIM:164900
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Talipes cavus equinovarus, Decreased ner... OMIM:601455
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sensorineural hearing impairment, Sandal gap, Rhizomelia, Hypoplasia of the radius, S... OMIM:607143
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Bilateral talipes equinovarus, Popliteal pterygium, Patellar hypoplasia, Low-set ears, Absent tib... OMIM:119800
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Microcephaly-Micromelia Syndrome
Absent radius, Low-set ears, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial sy... OMIM:251230
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Coxa valga, Sensorineural hearing impairment, Abnormal aud... OMIM:109120
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Slc35A2-Cdg
EEG with focal epileptiform discharges, Aplasia/hypoplasia involving bones of the extremities, Co... ORPHA:356961
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviat... OMIM:268305
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Narrow iliac wing, Genu varum, Bowing of the legs, Broad tibial metaphyses, Short palm, Short fem... ORPHA:2502
Acrocraniofacial Dysostosis
Conductive hearing impairment, Sensorineural hearing impairment, Micrognathia, Metatarsus adductu... OMIM:201050
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Atelosteogenesis Type Iii
Vertebral hypoplasia, Absent humerus, Absent radius, Epiphyseal stippling of the humerus, Microgn... ORPHA:56305
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Pes cavus, Decreased motor nerve conduction velocity, Prolonge... OMIM:601596
Brachymesomelia-Renal Syndrome
Low-set ears, Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulnar bowing, Mesomelic... OMIM:113470
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... OMIM:227270
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Hi... OMIM:609945
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Sweet Syndrome
Increased circulating interleukin 6 concentration, Recurrent infections, Abnormal circulating int... ORPHA:3243
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... OMIM:250215
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Hand polydactyly, Short tibia OMIM:258865
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth, Short lower limbs OMIM:236640
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Tibial bowing,... OMIM:600785
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Metaphyseal cuppin... OMIM:602111
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:540
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Low-set ears, Preaxial foot polydactyly, Short femu... ORPHA:1988
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Sensorineural hearing impai... ORPHA:3320
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Femoral bowing OMIM:166740
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Micrognathia, Lower limb undergrowth, Forearm under... ORPHA:314795
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Pes cavus, Absent Achilles reflex, ... ORPHA:1215
Omodysplasia 1
Popliteal pterygium, Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee fle... OMIM:258315
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Iritis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Iridocycli... ORPHA:85436
Microphthalmia With Limb Anomalies
Toe syndactyly, Hand oligodactyly, Low-set ears, Fibular hypoplasia, Postaxial foot polydactyly, ... OMIM:206920
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad first metatarsal, Y-shaped metacarpals, Conductive hearing impairment, C... ORPHA:2751
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Low-set ears, Fibular hypoplasia, Short ribs, Preaxial p... OMIM:617925
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Irregular epiphyses, Sensorineural hearing impairment, Cataract, Abnormal auditory evoked potenti... OMIM:619260
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia, Hand oligodactyly OMIM:165590
Arthrogryposis, Distal, Type 2A
Hearing impairment, Rocker bottom foot, Knee flexion contracture, Abnormal auditory evoked potent... OMIM:193700
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Fibular hypop... ORPHA:1788
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Micrognathia, Hypoplastic iliac ... ORPHA:96334
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Kyphomelic Dysplasia
Pterygium, Low-set ears, Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, ... OMIM:211350
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyndactyly of ... OMIM:263520
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Conductive he... OMIM:304120
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Fibrochondrogenesis 1
Hypoplastic ischia, Short palm, Low-set ears, Fibular hypoplasia, Posterior vertebral hypoplasia,... OMIM:228520
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal conjunctiva morph... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal conjunctiva morph... ORPHA:529799
Cousin Syndrome
Hypoplastic ischia, Microtia, first degree, Hypoplastic pubic bone, Toe syndactyly, 2-3 toe synda... OMIM:260660
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Atelosteogenesis, Type I
Vertebral hypoplasia, Talipes, 11 pairs of ribs, Micrognathia, Brachydactyly, Short humerus, Club... OMIM:108720
Late-Infantile/Juvenile Krabbe Disease
Pes cavus, EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked po... ORPHA:206443
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Micrognathia, Abnormal... ORPHA:3035
Trisomy 10P
Low-set ears, Flexion contracture of thumb, Abnormal foot morphology, Micrognathia, EEG with burs... ORPHA:171929
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:542323
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Hypoplasia o... ORPHA:958
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Phocomelia, Schinzel Type
Bowing of the long bones, Talipes, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hy... ORPHA:2879
Adult Krabbe Disease
Pes cavus, EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Mend Syndrome
2-3 toe syndactyly, Low-set ears, Overlapping fingers, Cataract, Hand polydactyly, Micrognathia, ... ORPHA:401973
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Low-set ears, Fibular hypoplasia, 11 pairs o... ORPHA:140
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Abnormality of the Achilles tendon, Abnormality o... ORPHA:909
Charcot-Marie-Tooth Disease Type 1F
Proximal lower limb amyotrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Decreas... ORPHA:101085
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia of the mandible, Fibular bowing, ... ORPHA:85165
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Hypoplasia of the ulna, Low-s... OMIM:200980
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Hearing impairment, Cataract, Conjunctivitis, Macr... ORPHA:90321
Occipital Horn Syndrome
Brachydactyly, Coxa valga, Short palm, Absent tibia, Pes planus, Aplastic clavicle, Abnormality o... ORPHA:198
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Heterochromia iridis, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic... OMIM:609136
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Cockayne Syndrome B
Developmental cataract, Square pelvis bone, Hypoplasia of the iris, Ivory epiphyses of the phalan... OMIM:133540
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Schneckenbecken Dysplasia
Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Short ribs, Incre... ORPHA:3144
Hydrolethalus Syndrome 1
Low-set ears, Upper limb undergrowth, Duplication of phalanx of hallux, Micrognathia, Proximal ti... OMIM:236680
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Fibular hypoplasia, Pes planus, 11 pairs of ribs,... OMIM:114290
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Cockayne Syndrome A
Square pelvis bone, Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairmen... OMIM:216400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... OMIM:208500
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly ORPHA:1827
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Overlapping fingers, Optic... ORPHA:79330
Camptodactyly Syndrome, Guadalajara, Type I
Small earlobe, Fibular hypoplasia, Twelfth rib hypoplasia, Hypoplastic iliac wing, Hallux valgus,... OMIM:211910
Charge Syndrome
Bilateral talipes equinovarus, Cupped ear, Hypoplasia of the ulna, Low-set ears, Absent tibia, Ab... OMIM:214800
Orofaciodigital Syndrome Type 4
Genu varum, Finger syndactyly, Low-set ears, Conductive hearing impairment, Aplasia/Hypoplasia of... ORPHA:2753
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Fibular hypoplasia, Paranasal sinus hypoplasia, Conductive hearing impairment, Clin... OMIM:300373
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Kinsship Syndrome
Coxa valga, Low-set ears, Fibular hypoplasia, Pes planus, Dislocated radial head, Micrognathia, P... OMIM:619297
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Brachydactyly, Cupped ear, Hypoplasia of proximal radius, Fibular hypoplasia, Conductive hearing ... 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.

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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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