Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
gamma-aminobutyric acid type A receptor subunit rho 1
Synonyms:
GABA-C

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 Gabrr1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gabrr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Head tremor, Torticollis, Dystonia, Intention tremor, ... OMIM:613724
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Musk, Inability To Smell
Anosmia OMIM:254150
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Aural Atresia, Congenital
Hyposmia OMIM:607842
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Bifid nose, Anosmia, Hyposmia OMIM:614838
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Indifference To Pain, Congenital, Autosomal Recessive
Abnormal nerve conduction velocity, Anosmia, Hyposmia OMIM:243000
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Short nasal septum, Short nose OMIM:302950
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia OMIM:610628
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia OMIM:619755
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Hyposmia OMIM:607060
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Huntington Disease
Dystonia, Abnormality of the sense of smell ORPHA:399
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Abnormality of the sense of smell OMIM:229070
Kufor-Rakeb Syndrome
Anosmia, Tremor, Torticollis, Dystonia, Hyposmia OMIM:606693
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Hyposmia OMIM:147950
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia, Decreased motor nerve conduction velocity, Abnormality of visual evoked potentials OMIM:601152
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia OMIM:210745
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Abnormality of the sense of smell OMIM:616113
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Solitary Median Maxillary Central Incisor
Choanal atresia, Anosmia, Midnasal stenosis, Abnormal nasopharynx morphology, Pyriform aperture s... OMIM:147250
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Abnormal nostril morphology, Short nose ORPHA:1295
Kleine-Levin Syndrome
Parosmia ORPHA:33543
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Bardet-Biedl Syndrome 17
Anosmia, Hyposmia OMIM:615994
Johnson Neuroectodermal Syndrome
Choanal atresia, Anosmia, Bulbous nose ORPHA:2316
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia OMIM:308700
Young-Onset Parkinson Disease
Tremor, Dystonia, Hyposmia ORPHA:2828
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Refsum Disease, Classic
Anosmia OMIM:266500
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Kallmann Syndrome With Spastic Paraplegia
Anosmia OMIM:308750
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose ORPHA:284160
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Chronic rhinitis OMIM:244400
Refsum Disease
Anosmia ORPHA:773
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Kallmann Syndrome
Anosmia, Tremor, Hyposmia ORPHA:478
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Hereditary Late-Onset Parkinson Disease
Dystonia, Resting tremor, Hyposmia ORPHA:411602
Septo-Optic Dysplasia Spectrum
Anosmia ORPHA:3157
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Absent brainstem auditory responses, Anosmia, Torticollis OMIM:609136
Holoprosencephaly
Choanal atresia, Depressed nasal ridge, Anosmia, Aplasia/Hypoplasia involving the nose, Depressed... ORPHA:2162
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Absent nares, Single naris, Hyposmia ORPHA:2250
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Gorlin Syndrome
Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia ORPHA:251066
Wilson Disease
Hand tremor, Decreased nerve conduction velocity, Limb dystonia, Tremor, Dystonia, Hyposmia OMIM:277900
Superficial Siderosis
Anosmia, Partial anosmia ORPHA:247245
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Meningioma
Abnormality of the sense of smell ORPHA:2495
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
Bosma Arhinia Microphthalmia Syndrome
Choanal atresia, Aplasia of the nose, Anosmia OMIM:603457
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Amoebiasis Due To Free-Living Amoebae
Hyposmia ORPHA:68
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Bardet-Biedl Syndrome
Depressed nasal bridge, Rhinitis, Prominent nasal bridge, Abnormality of the sense of smell ORPHA:110
Charge Syndrome
Depressed nasal bridge, Choanal atresia, Anosmia ORPHA:138
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia ORPHA:2363
Charge Syndrome
Choanal atresia, Anosmia OMIM:214800

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 Gabrr1

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 Gabrr1.

No publications found that use IMPC mice or data for Gabrr1.

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