Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 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, Torticollis, Head tremor, Dystonia, Hyposmia, Intentio... | 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 | |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia | Abnormality of the sense of smell | OMIM:146110 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell | ORPHA:1135 | |
Apnea, Obstructive Sleep | Anosmia | OMIM:107650 | |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia | Hyposmia, Anosmia, Bifid nose | 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 | Hyposmia, Anosmia, Abnormal nerve conduction velocity | OMIM:243000 | |
Chondrodysplasia Punctata 1, X-Linked Recessive | Short nasal septum, Anosmia, Depressed nasal bridge, Short nose | OMIM:302950 | |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia | Anosmia | OMIM:612370 | |
Body Mass Index Quantitative Trait Locus 19 | Hyposmia, Anosmia | OMIM:617885 | |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia | Anosmia | OMIM:615267 | |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:612702 | |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:610628 | |
Peroxisome Biogenesis Disorder 9B | Anosmia, Total anosmia | OMIM:614879 | |
Parkinson Disease 8, Autosomal Dominant | Hyposmia, Resting tremor | OMIM:607060 | |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:244200 | |
Hyperostosis Cranialis Interna | Hyposmia, Anosmia | OMIM:144755 | |
Bardet-Biedl Syndrome 19 | Hyposmia | OMIM:615996 | |
Huntington Disease | Abnormality of the sense of smell, Dystonia | ORPHA:399 | |
Kufor-Rakeb Syndrome | Torticollis, Tremor, Anosmia, Dystonia, Hyposmia | OMIM:606693 | |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia | Hyposmia, Anosmia, Choanal atresia | OMIM:147950 | |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia | Anosmia | OMIM:614880 | |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia | Hyposmia, Anosmia | OMIM:614897 | |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature | Anosmia, Wide nasal bridge | OMIM:210745 | |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia | Anosmia | OMIM:614839 | |
Gorlin Syndrome | Wide nasal bridge, Abnormality of the sense of smell | ORPHA:377 | |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia | Anosmia | OMIM:614842 | |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome | Anosmia | ORPHA:2057 | |
Hypogonadotropic Hypogonadism 25 With Anosmia | Anosmia | OMIM:618841 | |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy | Decreased motor nerve conduction velocity, Anosmia | OMIM:601152 | |
Polyendocrine-Polyneuropathy Syndrome | Abnormality of the sense of smell, Dystonia | OMIM:616113 | |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome | Abnormality of the sense of smell | ORPHA:3201 | |
Solitary Median Maxillary Central Incisor | Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... | OMIM:147250 | |
Marcus-Gunn Syndrome | Choanal atresia, Abnormality of the sense of smell | ORPHA:91412 | |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome | Abnormal nostril morphology, Short nose, Anosmia | ORPHA:1295 | |
Kleine-Levin Syndrome | Parosmia | ORPHA:33543 | |
Bardet-Biedl Syndrome 17 | Hyposmia, Anosmia | OMIM:615994 | |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia | Anosmia | OMIM:616030 | |
Johnson Neuroectodermal Syndrome | Bulbous nose, Anosmia, Choanal atresia | 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 | Hyposmia, Anosmia | OMIM:308700 | |
Young-Onset Parkinson Disease | Tremor, Hyposmia, Dystonia | 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 | |
8Q21.11 Microdeletion Syndrome | Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell | ORPHA:284160 | |
Kallmann Syndrome With Spastic Paraplegia | Anosmia | OMIM:308750 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii | Hyposmia | OMIM:616488 | |
Ciliary Dyskinesia, Primary, 1 | Nasal polyposis, Anosmia, Chronic rhinitis | OMIM:244400 | |
Refsum Disease | Anosmia | ORPHA:773 | |
Acro-Renal-Mandibular Syndrome | Abnormality of the sense of smell | ORPHA:958 | |
Kallmann Syndrome | Tremor, Hyposmia, Anosmia | ORPHA:478 | |
Isolated Follicle Stimulating Hormone Deficiency | Anosmia | ORPHA:52901 | |
Hereditary Late-Onset Parkinson Disease | Hyposmia, Resting tremor, Dystonia | ORPHA:411602 | |
Campomelic Dysplasia | Depressed nasal bridge, Abnormality of the sense of smell | ORPHA:140 | |
Septo-Optic Dysplasia Spectrum | Anosmia | ORPHA:3157 | |
Holoprosencephaly | Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Anosmia, Depressed nasa... | ORPHA:2162 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Hyposmia, Anosmia, Absent nares, Single naris | ORPHA:2250 | |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | Decreased nerve conduction velocity, Absent brainstem auditory responses, Torticollis, Anosmia | OMIM:609136 | |
Wilson Disease | Limb dystonia, Tremor, Decreased nerve conduction velocity, Hand tremor, Dystonia, Hyposmia | OMIM:277900 | |
Kallmann Syndrome-Heart Disease Syndrome | Partial anosmia, Total anosmia | ORPHA:2326 | |
Moebius Syndrome | Abnormality of the sense of smell | ORPHA:570 | |
8P11.2 Deletion Syndrome | Anosmia, Depressed nasal bridge | ORPHA:251066 | |
Superficial Siderosis | Anosmia, Partial anosmia | ORPHA:247245 | |
Waardenburg Syndrome, Type 2E | Anosmia | OMIM:611584 | |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia | Anosmia | OMIM:619718 | |
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 | Anosmia, Choanal atresia, Aplasia of the nose | 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 | Hyposmia, Depressed nasal ridge | OMIM:151100 | |
Charge Syndrome | Anosmia, Depressed nasal bridge, Choanal atresia | ORPHA:138 | |
Lacrimoauriculodentodigital Syndrome | Anosmia, Choanal atresia | ORPHA:2363 | |
Charge Syndrome | Anosmia, Choanal atresia | OMIM:214800 |
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