Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

G protein-coupled receptor 161
LOC240888,  vl

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Gpr161 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.

The table below shows human diseases associated to Gpr161 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Pituitary Stalk Interruption Syndrome

The table below shows human diseases predicted to be associated to Gpr161 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Uncombable Hair Syndrome 2
Juvenile cataract, Uncombable hair, Pili canaliculi OMIM:617251
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis, Myelopathy OMIM:159580
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract, Long eyelashes OMIM:190330
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation OMIM:300719
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn... ORPHA:42665
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation ORPHA:2253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Cataract 42
Cataract, Developmental cataract OMIM:115900
Nevus Comedonicus Syndrome
Cataract, Spina bifida, Spina bifida occulta, Abnormal hair morphology ORPHA:64754
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism OMIM:105500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract, Spinocerebellar tract degeneration OMIM:271320
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida ORPHA:945
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
X-Linked Retinoschisis
Cataract ORPHA:792
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Nathalie Syndrome
Cataract ORPHA:2663
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Talipes equinovarus, Camptodactyly, Spina bifida OMIM:211960
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida ORPHA:2476
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Cho... OMIM:601706
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis OMIM:606777
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Corneal opacity, Persistent pupillary membrane, Cataract, Aplasia/Hypop... ORPHA:1067
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Horner Syndrome, Congenital
Paralysis OMIM:143000
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... ORPHA:573
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Schisis Association
Micromelia, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Ataxia, Opisth... OMIM:207950
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu... ORPHA:71277
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Caudal Duplication
Spinal cord lesion, Myelomeningocele, Spina bifida ORPHA:1756
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida ORPHA:3169
Galactosemia Ii
Cataract OMIM:230200
Galactosemia Iv
Cataract OMIM:618881
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Myelomeningocele, Synophrys, White forelock, Hyp... OMIM:193500
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Abnormal fingernail morphology ORPHA:2278
Cataract 47
Cataract, Microcornea OMIM:612018
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida ORPHA:1104
Nathalie Syndrome
Cataract OMIM:255990
Czeizel-Losonci Syndrome
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Ectrodactyly, Myelomeningocele, Spina bifi... ORPHA:2437
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Clouston Syndrome
Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Hyperpigmentation of... OMIM:129500
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Camptodactyly of finger, Short toe, Brachydactyly, Short distal phalanx of finger, ... ORPHA:1327
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Woolly Hair Nevus
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... ORPHA:79414
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... ORPHA:1908
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Fountain Syndrome
Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Coarse metaphyse... ORPHA:3219
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Variegate Porphyria
Paralysis OMIM:176200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Ulnar Hemimelia
Dislocated radial head, Congenital finger flexion contractures, Upper limb phocomelia, Contractur... ORPHA:93320
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thumb, Spina bifida, Short ... ORPHA:1120
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Encephalocele ORPHA:65
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Hydranencephaly, Hydrocephalus, Dislocated radial head, Mesomeli... ORPHA:2839
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Umbilical hernia ORPHA:1373
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Hypokalemic Periodic Paralysis
Paralysis, Periodic hypokalemic paresis, Respiratory paralysis ORPHA:681
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelome... ORPHA:63259
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Coloboma, Abnorma... ORPHA:2334
Wildervanck Syndrome
Lens subluxation, Low posterior hairline, Meningocele ORPHA:3456
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta OMIM:182940
Proximal Myotonic Myopathy
Cataract ORPHA:606
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina OMIM:180104
Nail-Patella Syndrome
Microphakia, Ridged nail, Keratoconus, Microcornea, Cataract, Spina bifida, Antecubital pterygium... OMIM:161200
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... ORPHA:317
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Long distal phalanx of finger, Wind-swept deformity of the knees, Carpal bone hypoplasia, Broad d... OMIM:603546
Retinitis Pigmentosa 84
Cataract, Macular coloboma, Bone spicule pigmentation of the retina OMIM:618220
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis... ORPHA:98757
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Rhizomelic Chondrodysplasia Punctata
Cataract, Sparse body hair, Spina bifida occulta, Alopecia ORPHA:177
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Nail dystrophy, Scarring alopecia of scalp, Sparse eyelashes, Sparse eyebrow, Ker... OMIM:612843
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy, Cataract ORPHA:1366
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma, Cataract, Iris coloboma ORPHA:1473
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Retinitis Pigmentosa 4
Cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy OMIM:613731
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Nummular pigmentation of the fundus, Cataract, Pigmentary retinopathy OMIM:613835
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Neu-Laxova Syndrome 2
Rocker bottom foot, Toe syndactyly, Finger syndactyly, Spina bifida OMIM:616038
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida ORPHA:1393
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Sparse eyelashes, Sparse eyebrow, Cataract, Alopecia OMIM:615704
Toxin-Mediated Infectious Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:230800
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Corneal opacity, Atrichia, Congenital ab... ORPHA:1867
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Babinski sign, Hydrocephalus, Poor fine motor coordination, Vocal cord paralysis, Frequent falls,... ORPHA:99947
Chromosome 17P13.1 Deletion Syndrome
Proximal placement of thumb, Hydrocephalus, Short foot, Spina bifida, Arachnodactyly, Short palm,... OMIM:613776
Aniridia 3
Cataract, Aniridia OMIM:617142
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Humero-Radial Synostosis
Meningocele, Chorioretinal coloboma, Iris coloboma ORPHA:3265
Primary Angiitis Of The Central Nervous System
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis ORPHA:140989
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap OMIM:612918
Hallermann-Streiff Syndrome
Sparse scalp hair, Spina bifida, Sparse eyelashes, Sparse eyebrow, Chorioretinal coloboma, Sparse... OMIM:234100
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Ifap Syndrome 2
Nail dystrophy, Atrichia, Keratitis, Sparse hair, Cataract, Keratoconjunctivitis sicca OMIM:619016
Cataract 48
Cataract OMIM:618415
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Phakomatosis Pigmentokeratotica
Coloboma, Patchy alopecia, Melanocytic nevus, Spina bifida ORPHA:2874
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Hydrocephalus, Retinal coloboma OMIM:601794
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Focal Dermal Hypoplasia
Iris coloboma, Abnormality of the nail, Corneal opacity, Hypoplasia of the iris, Spina bifida, Ab... ORPHA:2092
Limb Body Wall Complex
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... ORPHA:2369
Cloacal Exstrophy
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Myelomeningocele, Spina bifid... ORPHA:93929
Trisomy 18
Cyclopia, Anencephaly, Microcornea, Spina bifida, Abnormal toenail morphology, Abnormality of ret... ORPHA:3380
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Tethered cord, Myelome... OMIM:600145
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Joubert Syndrome 9
Cataract, Astigmatism, Encephalocele OMIM:612285
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Trisomy 20P
Thick hair, Highly arched eyebrow, Low posterior hairline, Spina bifida, Low anterior hairline, T... ORPHA:261318
Hereditary Mucoepithelial Dysplasia
Corneal dystrophy, Sparse hair, Cataract, Fine hair, Alopecia ORPHA:1839
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Cataract ORPHA:171844
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Muscle-Eye-Brain Disease
Cataract, Holoprosencephaly, Hydrocephalus, Meningocele ORPHA:588
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Unilateral vocal cord paresis, Spinal dysraphism, Tethered cord OMIM:617660
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, A... ORPHA:2930
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Microcornea, Abnormality of skin pigmentation, Abnormal fingernail morphology,... ORPHA:1806
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Neu-Laxova Syndrome
Pterygium, Abnormal hair morphology, Abnormal eyelash morphology, Spina bifida, Cataract ORPHA:2671
Isolated Posterior Meningocele
Hypertonia, Neural tube defect, Hydromyelia, Meningocele, Paraplegia, Hydrocephalus, Lipomyelomen... ORPHA:268810
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx, E... ORPHA:2211
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Mosaic Trisomy 9
Rocker bottom foot, Micromelia, Spina bifida, Camptodactyly of finger, Finger clinodactyly, Talip... ORPHA:99776
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Meckel Syndrome, Type 2
Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l... OMIM:603194
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Abnormal pyramidal sign, ... OMIM:272750
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Hypoplasia of the radius, Spina bifida ORPHA:3412
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hypopigmentation of hair, I... ORPHA:999
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent hair, Nail dystrophy, Trichorrhexis nodosa, Ridged nail, Meningocele, Abnormality of the n... ORPHA:1010
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Microcornea,... ORPHA:3214
Frontofacionasal Dysplasia
Encephalocele, Microcornea, Limbal dermoid, Brushfield spots, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:1791
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Hydrocephalus, Spina bifida, Brachydactyly, Irregular ossifica... OMIM:109400
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Abnormal hair morphology ORPHA:414
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
X-Linked Adrenoleukodystrophy
Paralysis, Incoordination, Paraparesis, Hemiparesis, Progressive spastic paraparesis, Clumsiness ORPHA:43
Paralysis ORPHA:360
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Premature Aging Syndrome, Okamoto Type
Cataract, Abnormal hair morphology OMIM:601811
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Chorioretinal coloboma, Cataract, Buphthalmos, Iris coloboma OMIM:212550
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Spina bifida occulta, Iris cyst, Microcornea, Re... OMIM:612109
Albinism, Oculocutaneous, Type Ia
Astigmatism, Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent... OMIM:203100
Neu-Laxova Syndrome 1
Rocker bottom foot, Short umbilical cord, Stillbirth, Radial deviation of finger, Small placenta,... OMIM:256520
Amyotrophic Lateral Sclerosis
Babinski sign, Fasciculations, Spasticity, Motor neuron atrophy, Paralysis, Amyotrophic lateral s... ORPHA:803
Pagod Syndrome
Spina bifida, Encephalocele, Meningocele ORPHA:991
Campomelic Dysplasia
Fibular hypoplasia, Shortening of all phalanges of the toes, Patellar hypoplasia, Anterior tibial... OMIM:114290
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Foodborne Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:228371
Snakebite Envenomation
Paralysis, Pseudobulbar paralysis, Respiratory paralysis ORPHA:449285
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Clinodactyly of the 5th finger, Short 5th finger, 2-3 toe syndactyly, Spina bifida, Broad thumb, ... ORPHA:508498
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches, Abnormal fingernail morphology, Cataract, Opacification of the cornea... ORPHA:3453
Neurofibromatosis, Type I
Inguinal freckling, Aqueductal stenosis, Hydrocephalus, Multiple cafe-au-lait spots, Spina bifida... OMIM:162200
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Posterior polar cataract OMIM:613763
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Microphthalmia With Brain And Digit Anomalies
Nail dysplasia, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Iris coloboma ORPHA:139471
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Generalized hypopigmentation, White hair, Iris hypopigmentation, Cataract, Ocular ... ORPHA:2720
Vater/Vacterl Association
Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Tet... OMIM:192350
Koolen-De Vries Syndrome Due To A Point Mutation
Dural ectasia, Hydrocephalus, Hypopigmentation of the skin, Spina bifida, Cafe-au-lait spot, Deve... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Dural ectasia, Hydrocephalus, Hypopigmentation of the skin, Spina bifida, Cafe-au-lait spot, Deve... ORPHA:363958
Aicardi Syndrome
Sparse lateral eyebrow, Optic disc coloboma, Cataract, Spina bifida OMIM:304050
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Jacobsen Syndrome
Microcornea, Spina bifida, Aplasia/Hypoplasia of the eyebrow, Cataract, Iris coloboma ORPHA:2308
Cartilage-Hair Hypoplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Rhizomelia, Abnormal diaphysis morpho... ORPHA:175
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Spina bifida occulta, Highly arched eyebrow, Coloboma, Hirsutism, Low posterior ha... OMIM:180849
Fanconi Anemia
Hypopigmented skin patches, Irregular hyperpigmentation, Astigmatism, Hydrocephalus, Multiple caf... ORPHA:84
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... OMIM:304120
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... OMIM:221900
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Microcornea, Corneal opacity, Persistent pupillary... ORPHA:91495
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Hyperintensity of MRI T2 signal of the spinal cord, R... ORPHA:79139
Spinal cord tumor, Cyclopia, Encephalocele, Highly arched eyebrow, Branchial anomaly, Hydrocephal... ORPHA:2162
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Encephalocele, Short fifth metatarsal, Short third metatarsal, S... OMIM:134780
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Tapered finger, Spina bifida OMIM:619480
Mucoepithelial Dysplasia, Hereditary
Nail dysplasia, Nail dystrophy, Corneal neovascularization, Chronic monilial nail infection, Kera... OMIM:158310
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
22Q11.2 Deletion Syndrome
Hypopigmented skin patches, Corneal neovascularization, Meningocele, Hydrocephalus, Spina bifida,... ORPHA:567
Chromosome 16Q12 Duplication Syndrome
Cataract, Retinal pigment epithelial mottling, Anisocoria OMIM:619649
Cutis Laxa, Autosomal Recessive, Type Ib
Bowing of the long bones, Spina bifida, Arachnodactyly, Long fingers, Neonatal death OMIM:614437
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Inhalational Botulism
Paralysis ORPHA:254504
Incontinentia Pigmenti
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Ridged nail, Breast aplasia, Onychogryposis, H... OMIM:308300
Aprosencephaly Syndrome
Anencephaly, Aprosencephaly, Finger aplasia OMIM:207770
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Corneal kera... ORPHA:263479
Hyperkinetic movements, Myelitis, Fasciculations, Paraparesis, Paralysis ORPHA:2912
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Coarse hair, Sparse hair OMIM:118650
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
Hyperkalemic Periodic Paralysis
Fasciculations, Hypertonia, Periodic hyperkalemic paralysis, Cerebral palsy ORPHA:682
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy OMIM:268100
Schwannomatosis, Vestibular
Inguinal freckling, Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opa... OMIM:101000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Coloboma, Long eyelashes, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Brittle Cornea Syndrome
Corneal erosion, Keratoglobus, Corneal dystrophy, Decreased corneal thickness, Abnormality of hai... ORPHA:90354
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Large placenta, Small proximal tibial epiphyses, Short 1st metacarpal, Broad distal phalanx of fi... ORPHA:96334
Sympathetic Ophthalmia
Anterior chamber cells, Poliosis, Corneal keratic precipitates, Vitiligo, Cataract, Posterior syn... ORPHA:79098
Tick-Borne Encephalitis
Hyperkinetic movements, Myelitis, Tongue fasciculations, Incoordination, Tremor, Speech apraxia, ... ORPHA:297
Arnold-Chiari Malformation Type I
Babinski sign, Syringomyelia, Progressive cerebellar ataxia, Vocal cord paralysis, Gait ataxia, M... ORPHA:268882
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Paralysis ORPHA:79102
Encephalocraniocutaneous Lipomatosis
Hypertonia, Tetraplegia, Spasticity, Hemiparesis, Rigidity, Paralysis, Hemiplegia ORPHA:2396
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Andersen-Tawil Syndrome
Periodic paralysis, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis ORPHA:37553
Rift Valley Fever
Paralysis, Decerebrate rigidity, Hemiparesis, Paraparesis ORPHA:319251
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Myoclonus, Paralysis, Tetraparesis OMIM:203700
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Hypertonia, Oculomotor apraxia, Hydrocephalus, Spastic paraplegia, Paralysis ORPHA:2072
African Trypanosomiasis
Myelitis, Fasciculations, Tremor, Involuntary movements, Hemiparesis, Myelopathy, Paralysis, Chor... ORPHA:3385
Paralysis ORPHA:251909
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Gitelman Syndrome
Paralysis ORPHA:358
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Tremor ORPHA:91347
Pituitary Stalk Interruption Syndrome


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 Gpr161

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 Gpr161.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The G protein-coupled receptor Gpr161 regulates forelimb formation, limb patterning and skeletal morphogenesis in a primary cilium-dependent manner. Development (Cambridge, England) (January 2018) Gpr161tm1a(EUCOMM)Hmgu PMC5825871

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MGI Allele Allele Type Produced
Gpr161tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gpr161tm3a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gpr161tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gpr161tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gpr161tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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