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Gene: Gabrr1 MGI:95625

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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 (GABA) C receptor, subunit rho 1
Synonyms:
GABA-C

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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 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
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
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
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Intention tremor, Head tremor, Hyposmia OMIM:613724
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Anosmia, Wide nasal bridge OMIM:600679
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Aural Atresia, Congenital
Hyposmia OMIM:607842
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614838
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia OMIM:302950
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Anosmia, Hyposmia OMIM:612702
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia, Abnormal nerve conduction velocity OMIM:243000
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia, Hyposmia OMIM:610628
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Anosmia, Hyposmia OMIM:608720
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia, Hyposmia OMIM:244200
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Hyposmia OMIM:607060
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Anosmia, Hyposmia OMIM:147950
Huntington Disease
Abnormality of the sense of smell, Dystonia ORPHA:399
Kufor-Rakeb Syndrome
Torticollis, Hyposmia, Tremor, Anosmia, Dystonia OMIM:606693
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Midnasal stenosis, ... OMIM:147250
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Hyposmia OMIM:614897
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Anosmia OMIM:601152
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia ORPHA:91412
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormality of the nares, Short nose, Anosmia ORPHA:1295
Bardet-Biedl Syndrome 17
Anosmia, Hyposmia OMIM:615994
Johnson Neuroectodermal Syndrome
Bulbous nose, Choanal atresia, Anosmia ORPHA:2316
Johnson Neuroectodermal Syndrome
Anosmia, Choanal stenosis OMIM:147770
Refsum Disease, Classic
Anosmia OMIM:266500
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Young-Onset Parkinson Disease
Tremor, Dystonia, Hyposmia ORPHA:2828
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Recurrent bronchitis, Anosmia, Nasal polyposis OMIM:244400
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia OMIM:308700
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Wide nose, Underdeveloped nasal alae ORPHA:284160
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Refsum Disease
Anosmia ORPHA:773
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Kallmann Syndrome With Spastic Paraplegia
Anosmia OMIM:308750
Kallmann Syndrome
Tremor, Anosmia, Hyposmia ORPHA:478
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge ORPHA:442
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Hereditary Late-Onset Parkinson Disease
Dystonia, Resting tremor, Hyposmia ORPHA:411602
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hyposmia, Depressed nasal tip, Choa... ORPHA:2162
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Single naris, Absent nares, Anosmia, Hyposmia ORPHA:2250
Wilson Disease
Decreased nerve conduction velocity, Hand tremor, Hyposmia, Tremor, Limb dystonia, Dystonia OMIM:277900
Septo-Optic Dysplasia Spectrum
Anosmia ORPHA:3157
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Absent brainstem auditory responses, Anosmia, Decreased nerve conduction velocity OMIM:609136
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia ORPHA:2326
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia ORPHA:251066
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Superficial Siderosis
Anosmia, Partial anosmia ORPHA:247245
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Meningioma
Abnormality of the sense of smell ORPHA:2495
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Choanal atresia, Anosmia OMIM:603457
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia OMIM:151100
Amoebiasis Due To Free-Living Amoebae
Hyposmia ORPHA:68
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
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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