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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:
N/A

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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
Anosmia OMIM:301700
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Musk, Inability To Smell
Anosmia OMIM:254150
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Hyposmia, Anosmia OMIM:615267
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Anosmia, Deviated nasal septum, Wide nasal bridge OMIM:600679
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Hyposmia, Intention tremor OMIM:613724
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
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
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614838
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Short nasal septum, Short nose, Depressed nasal bridge OMIM:302950
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Hyposmia, Anosmia OMIM:608720
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Parkinson Disease 8, Autosomal Dominant
Hyposmia, Resting tremor OMIM:607060
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Anosmia OMIM:610628
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Huntington Disease
Abnormality of the sense of smell ORPHA:399
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Anosmia OMIM:244200
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anosmia, Pyriform aperture stenosis, Choanal atresia, Midnasal s... OMIM:147250
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Anosmia OMIM:601152
Kufor-Rakeb Syndrome
Anosmia, Tremor, Hyposmia OMIM:606693
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia OMIM:147950
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short nose, Abnormality of the nares ORPHA:1295
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Johnson Neuroectodermal Syndrome
Anosmia, Choanal atresia, Bulbous nose 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
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Anosmia, Hyposmia OMIM:308700
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Refsum Disease
Anosmia ORPHA:773
8Q21.11 Microdeletion Syndrome
Abnormality of the sense of smell, Underdeveloped nasal alae, Wide nose ORPHA:284160
Young-Onset Parkinson Disease
Tremor, Hyposmia ORPHA:2828
Kallmann Syndrome
Anosmia, Tremor, Hyposmia ORPHA:478
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge ORPHA:140
Congenital Hypothyroidism
Anosmia, Depressed nasal ridge ORPHA:442
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Anosmia, Decreased nerve conduction velocity OMIM:609136
Kallmann Syndrome With Spastic Paraplegia
Anosmia OMIM:308750
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anosmia, Single naris, Hyposmia, Absent nares ORPHA:2250
Holoprosencephaly
Depressed nasal tip, Anosmia, Choanal atresia, Hyposmia, Depressed nasal ridge, Aplasia/Hypoplasi... ORPHA:2162
Hereditary Late-Onset Parkinson Disease
Hyposmia, Resting tremor ORPHA:411602
Septo-Optic Dysplasia Spectrum
Anosmia ORPHA:3157
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
Anosmia, Depressed nasal bridge ORPHA:251066
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Superficial Siderosis
Anosmia, Partial anosmia ORPHA:247245
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Anosmia, Choanal atresia OMIM:603457
Meningioma
Abnormality of the sense of smell ORPHA:2495
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Amoebiasis Due To Free-Living Amoebae
Hyposmia ORPHA:68
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
Charge Syndrome
Anosmia, Choanal atresia, Depressed nasal bridge ORPHA:138
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Charge Syndrome
Anosmia, Choanal atresia, Posterior choanal atresia 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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