banner
Genes Phenotypes Help, News, Blog

Gene: Gpr161 MGI:2685054

Log in to follow
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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Spina bifida, Spinal dysraphism ORPHA:3176
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Uncombable Hair Syndrome 2
Uncombable hair, Juvenile cataract, 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
Myelopathy, Abnormal pyramidal sign, Spastic paraparesis 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
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Cataract OMIM:300719
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract 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
Punctate corneal dystrophy, Cataract, 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, Cataract, Spina bifida occulta, Spina bifida ORPHA:64754
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spinocerebellar tract degeneration, Corneal dystrophy, Developmental cataract OMIM:271320
Woolly Hair
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... ORPHA:170
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Acalvaria
Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida ORPHA:945
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
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, Spina bifida, Camptodactyly OMIM:211960
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... ORPHA:894
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
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
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
X-Linked Retinoschisis
Cataract ORPHA:792
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... ORPHA:573
Horner Syndrome, Congenital
Paralysis OMIM:143000
Galactosemia Iv
Cataract OMIM:618881
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Schisis Association
Encephalocele, Anencephaly, Spina bifida, Micromelia ORPHA:63862
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... OMIM:619947
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis OMIM:300857
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Syringo... OMIM:207950
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Galactosemia Ii
Cataract OMIM:230200
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Sirenomelia
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis ORPHA:640
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Spina bifida, Synophrys, Myelomeningocele, Blue... OMIM:193500
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... ORPHA:3437
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Abnormal fingernail morphology ORPHA:2278
Cataract 47
Microcornea, Cataract OMIM:612018
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract OMIM:613801
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Anophthalmia Plus Syndrome
Deviation of finger, Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Hitchhiker thumb, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 finger syndactyly, Clubbing ... ORPHA:2437
Nathalie Syndrome
Cataract OMIM:255990
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Clouston Syndrome
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... OMIM:129500
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Spina bifida, Short toe, S... ORPHA:1327
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men... ORPHA:1908
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Large h... ORPHA:3219
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
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Wildervanck Syndrome
Meningocele, Lens subluxation, Low posterior hairline ORPHA:3456
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of the 4th finger, Dislocated radial head, Ra... ORPHA:93320
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract ORPHA:65
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... ORPHA:2839
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Long proximal phalanx of finger, Flat capital femoral epiphysis, Streaky met... OMIM:603546
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Umbilical hernia, Cataract ORPHA:1373
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Iniencephaly
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane... ORPHA:63259
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Proximal Myotonic Myopathy
Cataract ORPHA:606
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo... ORPHA:93323
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Nail-Patella Syndrome
Keratoconus, Ridged nail, Cataract, Spina bifida, Concave nail, Antecubital pterygium, Microcorne... OMIM:161200
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Erythrokeratodermia Variabilis
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morphology, Abnormality... ORPHA:317
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract OMIM:180104
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Rhizomelic Chondrodysplasia Punctata
Alopecia, Cataract, Spina bifida occulta, Sparse body hair ORPHA:177
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj... OMIM:612843
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Cataract, Alopecia totalis ORPHA:1366
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma ORPHA:1473
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Myasthenic Syndrome, Congenital, 16
Periodic paralysis OMIM:614198
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Retinitis Pigmentosa 4
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract OMIM:613731
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida OMIM:616038
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy OMIM:613835
Pellagra-Like Syndrome
Cataract OMIM:260650
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Clinodactyly of the 5th finger, Hydranencephaly ORPHA:1393
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Abnormal spinal cord morphology, Hydrocephalus, Babinski sign, Vocal cord paraly... ORPHA:99947
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bifida, Tapered f... OMIM:613776
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A... ORPHA:1867
Aniridia 3
Aniridia, Cataract OMIM:617142
Humero-Radial Synostosis
Meningocele, Iris coloboma, Chorioretinal coloboma ORPHA:3265
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism OMIM:612918
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia OMIM:615704
Hallermann-Streiff Syndrome
Sparse scalp hair, Cataract, Sparse eyelashes, Spina bifida, Sparse eyebrow, Optic disc coloboma,... OMIM:234100
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Ifap Syndrome 2
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair OMIM:619016
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bi... OMIM:600145
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Cataract, Retinal coloboma OMIM:601794
Phakomatosis Pigmentokeratotica
Coloboma, Patchy alopecia, Spina bifida, Melanocytic nevus ORPHA:2874
Cataract 48
Cataract OMIM:618415
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... ORPHA:2369
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Focal Dermal Hypoplasia
Alopecia, Corneal opacity, Spina bifida, Ectopia lentis, Hypoplasia of the iris, Abnormality of s... ORPHA:2092
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Cyclopia, Spina bifida, Anencephaly, Microcornea, ... ORPHA:3380
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Cloacal Exstrophy
Spina bifida, Myelomeningocele, Abnormal tibia morphology, Absent foot, Abnormal fibula morpholog... ORPHA:93929
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Joubert Syndrome 9
Encephalocele, Cataract, Astigmatism OMIM:612285
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Trisomy 20P
Thick hair, Highly arched eyebrow, Spina bifida, Low anterior hairline, Low posterior hairline, C... ORPHA:261318
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair ORPHA:1839
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, ... ORPHA:268810
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Cataract, Holoprosencephaly ORPHA:588
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Facial-lingual fasciculations, Babinski sign, Vocal cord ... ORPHA:276244
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal cord paralysis, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal cord paralysis, Clum... ORPHA:276241
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... ORPHA:1806
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism OMIM:617660
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Neu-Laxova Syndrome
Cataract, Spina bifida, Abnormal eyelash morphology, Abnormal hair morphology, Pterygium ORPHA:2671
Mosaic Trisomy 9
Rocker bottom foot, Spina bifida, Micromelia, Camptodactyly of finger, Finger clinodactyly, Talip... ORPHA:99776
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Clinodactyly of the 5th finger, Short phalanx of finger, Genu varum, Hypoplasia o... OMIM:274000
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B... ORPHA:2211
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Spasticity, Paralysis ORPHA:803
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Spina bifida ORPHA:3412
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Meningocele, Nu... ORPHA:1010
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Genetic Hyperferritinemia Without Iron Overload
Cataract, Fragile nails ORPHA:254704
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Irregular ossification of hand bones, Polydactyly, Short distal phal... OMIM:109400
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Myelomeningocele, Hypopigmented... ORPHA:3440
Frontofacionasal Dysplasia
Encephalocele, Cataract, Brushfield spots, Microcornea, Limbal dermoid, Absent inner eyelashes, I... ORPHA:1791
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of retinal pigmentation, Whit... ORPHA:79432
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Cataract, Subcapsular cataract ORPHA:414
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma OMIM:212550
Glioblastoma
Paralysis ORPHA:360
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micromelia, Long fingers, Ca... OMIM:256520
Neurofibromatosis, Type I
Inguinal freckling, Spina bifida, Aqueductal stenosis, Axillary freckling, Hydrocephalus, Lisch n... OMIM:162200
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Oculoauricular Syndrome
Cataract, Sclerocornea, Spina bifida occulta, Developmental cataract, Microcornea, Iris cyst, Pos... OMIM:612109
Campomelic Dysplasia
Hallux valgus, Bowing of the long bones, Anterior tibial bowing, Spina bifida, Metatarsus adductu... OMIM:114290
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Talipes cavus equin... ORPHA:573278
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Autoimmune Polyendocrinopathy Type 1
Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ... ORPHA:3453
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad hallux, Overlapping toe, Spina bifida, Preaxial hand polydactyly, 2-3 toe syndactyly, Short... ORPHA:508498
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, Sclerocornea, Microcornea, Nail dysplasia, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Hydrocephalus, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigm... ORPHA:2720
Aicardi Syndrome
Optic disc coloboma, Cataract, Spina bifida, Sparse lateral eyebrow OMIM:304050
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Spina bifida, Hydrocephalus, Developmental cataract, Dural ectasia, Cafe-au-lait spot, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Spina bifida, Hydrocephalus, Developmental cataract, Dural ectasia, Cafe-au-lait spot, ... ORPHA:363958
Jacobsen Syndrome
Cataract, Spina bifida, Microcornea, Iris coloboma, Aplasia/Hypoplasia of the eyebrow ORPHA:2308
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Thick eyebrow, Cataract, Highly arched eyebrow, Spina bifida, Low anterior hairlin... OMIM:180849
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Otopalatodigital Syndrome, Type Ii
Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Radial bowing, Broad hallux, S... OMIM:304120
Fanconi Anemia
Cataract, Spina bifida, Hydrocephalus, Hypopigmented skin patches, Aplasia/Hypoplasia of the iris... ORPHA:84
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... ORPHA:175
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Tethered cord, Spina bifida, Absent radius, Short thumb, Hyp... OMIM:192350
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Holoprosencephaly
Encephalocele, Highly arched eyebrow, Synophrys, Hydrocephalus, Spinal cord tumor, Spinal dysraph... ORPHA:2162
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... ORPHA:79139
22Q11.2 Deletion Syndrome
Cataract, Spina bifida, Hydrocephalus, Meningocele, Hypopigmented skin patches, Occipital myelome... ORPHA:567
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida, Tapered finger OMIM:619480
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract OMIM:619649
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne... OMIM:158310
Inhalational Botulism
Paralysis ORPHA:254504
Incontinentia Pigmenti
Ridged nail, Alopecia, Cataract, Supernumerary nipple, Keratitis, Nail pits, Fine hair, Abnormali... OMIM:308300
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair, Cataract OMIM:118650
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Poliomyelitis
Paralysis, Paraparesis, Hyperkinetic movements, Fasciculations, Myelitis ORPHA:2912
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations ORPHA:682
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Cataract OMIM:268100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long eyelashes OMIM:615877
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Brittle Cornea Syndrome
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... ORPHA:90354
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Thumb contracture, Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Interphalange... ORPHA:96334
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis ORPHA:397744
Sympathetic Ophthalmia
Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber... ORPHA:79098
Arnold-Chiari Malformation Type I
Myelopathy, Babinski sign, Vocal cord paralysis, Gait ataxia, Progressive cerebellar ataxia, Syri... ORPHA:268882
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasciculations,... ORPHA:297
Congenital Ptosis
Cafe-au-lait spot, Astigmatism, Piebaldism, Long eyelashes ORPHA:91411
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis OMIM:203700
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Hydrocephalus, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor apraxia ORPHA:2072
African Trypanosomiasis
Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myelopathy, Hemiparesi... 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
Tremor, Periodic hypokalemic paresis 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