Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
G protein-coupled receptor 161
Synonyms:
LOC240888,  vl

IMPC Data Collections

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

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.

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
phenotypes
Matching phenotypes Source
Medulloblastoma
OMIM:155255
Pituitary Stalk Interruption Syndrome
ORPHA:95496

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

Disease Similarity of
phenotypes
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
Pili canaliculi, Uncombable hair, Juvenile cataract 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
Spastic paraparesis, Myelopathy, Abnormal pyramidal sign 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
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation OMIM:300719
Tietz Syndrome
Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of... 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, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Cataract 42
Cataract, Developmental cataract OMIM:115900
Nevus Comedonicus Syndrome
Abnormal hair morphology, Spina bifida occulta, Spina bifida, Cataract 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
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spinocerebellar tract degeneration, Corneal dystrophy, Developmental cataract OMIM:271320
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Acalvaria
Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly ORPHA:945
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, 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
Camptodactyly, Talipes equinovarus, 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
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... 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
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ... OMIM:601706
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... ORPHA:1067
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Horner Syndrome, Congenital
Paralysis OMIM:143000
Monilethrix
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... ORPHA:573
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Schisis Association
Micromelia, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair 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
Cervical myelopathy, Myelomeningocele, Syringomyelia, Opisthotonus, Hydrocephalus, Spina bifida, ... OMIM:207950
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Aplasia Cutis Congenita
Toe syndactyly, Spinal dysraphism, Finger syndactyly ORPHA:1114
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Sirenomelia
Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida ORPHA:3169
Galactosemia Ii
Cataract OMIM:230200
Galactosemia Iv
Cataract OMIM:618881
Waardenburg Syndrome, Type 1
Premature graying of hair, Myelomeningocele, Partial albinism, Thick eyebrow, White forelock, Het... OMIM:193500
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... ORPHA:998
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, 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
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... ORPHA:3437
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Abnormal fingernail morphology, Cataract ORPHA:2278
Cataract 47
Cataract, Microcornea OMIM:612018
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Nathalie Syndrome
Cataract OMIM:255990
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, 2-3 finger syndactyly, H... ORPHA:2437
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... OMIM:129500
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Hallux valgus... ORPHA:1327
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin 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
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Finger syndactyly, Micromelia, Encephalocele, Aplasia/Hypoplasia of the thumb,... ORPHA:1908
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Fountain Syndrome
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal metacarpal morphol... ORPHA:3219
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Variegate Porphyria
Paralysis OMIM:176200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Ulnar Hemimelia
Abnormal upper limb bone morphology, Short forearm, Radial bowing, Carpal synostosis, Radial club... ORPHA:93320
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... ORPHA:1120
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, 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
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi... ORPHA:2839
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Umbilical hernia ORPHA:1373
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Iniencephaly
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Syringomyelia... ORPHA:63259
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Proximal Myotonic Myopathy
Cataract ORPHA:606
Wildervanck Syndrome
Lens subluxation, Meningocele, Low posterior hairline ORPHA:3456
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... 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
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina OMIM:180104
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Ridged nail, Anonychia, Lester's sign, Spina bifida, Concave ... OMIM:161200
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Erythrokeratodermia Variabilis
Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,... ORPHA:317
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Spinal dysraphism, Flared metaphysis, Hypoplasia of the capital f... OMIM:603546
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina, Macular coloboma OMIM:618220
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Spina bifida occulta, Alopecia, Cataract ORPHA:177
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... OMIM:612843
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Nail dystrophy, Alopecia totalis ORPHA:1366
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, 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, Pigmentary retinopathy, Bone spicule pigmentation of the retina OMIM:613731
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma OMIM:613835
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Neu-Laxova Syndrome 2
Rocker bottom foot, Finger syndactyly, Toe syndactyly, Spina bifida OMIM:616038
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Spina bifida, Clinodactyly of the 5th finger, Meningocele ORPHA:1393
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia OMIM:615704
Hereditary Bullous Dystrophy, Macular Type
Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s... ORPHA:1867
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand tremor, Postural tremor, Babinski sign, Abnormal spinal cord morphology, Hydrocephalus, Voca... ORPHA:99947
Chromosome 17P13.1 Deletion Syndrome
Broad hallux, Umbilical hernia, Long hallux, Arachnodactyly, Hallux valgus, Hydrocephalus, Spina ... OMIM:613776
Aniridia 3
Cataract, Aniridia OMIM:617142
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Sandal gap, Spinal dysraphism, Tethered cord OMIM:612918
Hallermann-Streiff Syndrome
Cataract, Sparse eyebrow, Fine hair, Chorioretinal coloboma, Optic disc coloboma, Sparse eyelashe... OMIM:234100
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Ifap Syndrome 2
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair OMIM:619016
Cataract 48
Cataract OMIM:618415
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Phakomatosis Pigmentokeratotica
Patchy alopecia, Coloboma, Spina bifida, Melanocytic nevus ORPHA:2874
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Hydrocephalus, Retinal coloboma OMIM:601794
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Focal Dermal Hypoplasia
Alopecia, Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Umbilical hernia, Spina... ORPHA:2092
Limb Body Wall Complex
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... ORPHA:2369
Cloacal Exstrophy
Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Spina bifida, Abnormal fibula m... ORPHA:93929
Trisomy 18
Cataract, Microcornea, Abnormality of retinal pigmentation, Anencephaly, Abnormal toenail morphol... ORPHA:3380
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Sacral Defect With Anterior Meningocele
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes... OMIM:600145
Diabetic Embryopathy
Spinal dysraphism, Hydrocephalus ORPHA:1926
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Joubert Syndrome 9
Astigmatism, Cataract, Encephalocele OMIM:612285
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Trisomy 20P
Highly arched eyebrow, Coarse hair, Umbilical hernia, Thick eyebrow, Low anterior hairline, Low p... ORPHA:261318
Hereditary Mucoepithelial Dysplasia
Cataract, Alopecia, Fine hair, Sparse hair, Corneal dystrophy ORPHA:1839
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia, Abnormality of retinal pigmentation ORPHA:171844
Machado-Joseph Disease Type 3
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Abn... ORPHA:276244
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Muscle-Eye-Brain Disease
Cataract, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Unilateral vocal cord paresis, Spinal dysraphism, Tethered cord OMIM:617660
Machado-Joseph Disease Type 1
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Bab... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Bab... ORPHA:276241
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General... ORPHA:2930
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... ORPHA:1806
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Neu-Laxova Syndrome
Cataract, Pterygium, Abnormal hair morphology, Spina bifida, Abnormal eyelash morphology ORPHA:2671
Isolated Posterior Meningocele
Hydromyelia, Paraplegia, Hydrocephalus, Lipomyelomeningocele, Hypertonia, Meningocele, Occipital ... ORPHA:268810
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... ORPHA:2211
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Mosaic Trisomy 9
Micromelia, Finger clinodactyly, Camptodactyly of finger, Talipes equinovarus, Spina bifida, Rock... ORPHA:99776
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... OMIM:603194
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Vacterl With Hydrocephalus
Aqueductal stenosis, Hypoplasia of the radius, Hydrocephalus, Spina bifida ORPHA:3412
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Generalized hypotrichosis, Nuclear cataract, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, R... ORPHA:1010
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... ORPHA:3214
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Encephalocele, Aplasia/Hypoplasia ... ORPHA:1791
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Polydactyly, Short 4th metacarpal, Brachydactyly, Hydrocephalu... OMIM:109400
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Myelomeningocele, Abnormal eyebrow morphol... ORPHA:3440
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Cataract, Subcapsular cataract ORPHA:414
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis ORPHA:43
Glioblastoma
Paralysis ORPHA:360
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... OMIM:203100
Neu-Laxova Syndrome 1
Hydranencephaly, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Small placenta, Rad... OMIM:256520
Amyotrophic Lateral Sclerosis
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Motor neuron... ORPHA:803
Pagod Syndrome
Meningocele, Encephalocele, Spina bifida ORPHA:991
Campomelic Dysplasia
Spinal dysraphism, Short 1st metacarpal, Shortening of all phalanges of the toes, Patellar hypopl... OMIM:114290
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Snakebite Envenomation
Respiratory paralysis, Paralysis, Pseudobulbar paralysis ORPHA:449285
Autoimmune Polyendocrinopathy Type 1
Cataract, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Opacification of ... ORPHA:3453
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Overlapping toe, 2-3 toe ... ORPHA:508498
Neurofibromatosis, Type I
Inguinal freckling, Lisch nodules, Multiple cafe-au-lait spots, Hydrocephalus, Spina bifida, Axil... OMIM:162200
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Nail dysplasia, Sclerocornea, Iris coloboma ORPHA:139471
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Hydrocephalus, Generalized hypopigm... ORPHA:2720
Vater/Vacterl Association
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... OMIM:192350
Aicardi Syndrome
Cataract, Sparse lateral eyebrow, Spina bifida, Optic disc coloboma OMIM:304050
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Dural ectasia, Hypopigmentation of the skin, Fair hair, Vitiligo, Hydrocephalus, Spina ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Dural ectasia, Hypopigmentation of the skin, Fair hair, Vitiligo, Hydrocephalus, Spina ... ORPHA:363958
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Jacobsen Syndrome
Cataract, Microcornea, Spina bifida, Aplasia/Hypoplasia of the eyebrow, Iris coloboma ORPHA:2308
Cartilage-Hair Hypoplasia
Small hand, Spinal dysraphism, Rhizomelia, Micromelia, Abnormal diaphysis morphology, Abnormal di... ORPHA:175
Rubinstein-Taybi Syndrome 1
Cataract, Facial hypertrichosis, Highly arched eyebrow, Long eyelashes, Thick eyebrow, Frontal up... OMIM:180849
Fanconi Anemia
Cataract, Irregular hyperpigmentation, Hypopigmented skin patches, Umbilical hernia, Astigmatism,... ORPHA:84
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... ORPHA:91495
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Holoprosencephaly
Highly arched eyebrow, Spinal dysraphism, Chorioretinal coloboma, Thick eyebrow, Branchial anomal... ORPHA:2162
Femoral-Facial Syndrome
Short fifth metatarsal, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Preax... OMIM:134780
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Tapered finger OMIM:619480
Mucoepithelial Dysplasia, Hereditary
Cataract, Alopecia, Coarse hair, Chronic monilial nail infection, Opacification of the corneal st... OMIM:158310
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
22Q11.2 Deletion Syndrome
Cataract, Hypopigmented skin patches, Umbilical hernia, Corneal neovascularization, Posterior emb... ORPHA:567
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling OMIM:619649
Cutis Laxa, Autosomal Recessive, Type Ib
Neonatal death, Arachnodactyly, Bowing of the long bones, Spina bifida, Long fingers OMIM:614437
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Inhalational Botulism
Paralysis ORPHA:254504
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... OMIM:308300
Aprosencephaly Syndrome
Finger aplasia, Aprosencephaly, Anencephaly OMIM:207770
Fuchs Heterochromic Iridocyclitis
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl... ORPHA:263479
Chondrodysplasia Punctata, Autosomal Dominant
Cataract, Sparse hair, Coarse hair OMIM:118650
Poliomyelitis
Myelitis, Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis ORPHA:2912
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations ORPHA:682
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy OMIM:268100
Schwannomatosis, Vestibular
Cataract, Posterior subcapsular cataract, Inguinal freckling, Lisch nodules, Juvenile posterior s... OMIM:101000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Coloboma, Sclerocornea OMIM:615877
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal dystroph... ORPHA:90354
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Broad distal phalanx of finger, Spinal dysraphism, Short 1st metacarpal, Metaphyseal spurs, Short... ORPHA:96334
Sympathetic Ophthalmia
Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterior chamber, Corneal ... ORPHA:79098
Tick-Borne Encephalitis
Tongue fasciculations, Myelitis, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, ... ORPHA:297
Arnold-Chiari Malformation Type I
Myelopathy, Gait ataxia, Syringomyelia, Babinski sign, Vocal cord paralysis, Progressive cerebell... ORPHA:268882
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia ORPHA:79102
Encephalocraniocutaneous Lipomatosis
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia ORPHA:2396
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis ORPHA:37553
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Rift Valley Fever
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis ORPHA:319251
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia 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
Spastic paraplegia, Limb ataxia, Paralysis, Oculomotor apraxia, Hydrocephalus, Hypertonia ORPHA:2072
African Trypanosomiasis
Involuntary movements, Myelitis, Myelopathy, Fasciculations, Abnormal central motor function, Tre... ORPHA:3385
Pineoblastoma
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
Medulloblastoma
OMIM:155255
Pituitary Stalk Interruption Syndrome
ORPHA:95496

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 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

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
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter