Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
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 Grm5 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Photoparoxysmal Response 1 | EEG with photoparoxysmal response | OMIM:132100 | |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon | EEG abnormality | OMIM:130200 | |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups | EEG abnormality | OMIM:130300 | |
Specific Language Impairment 2 | Deficit in phonologic short-term memory | OMIM:606712 | |
Specific Language Impairment 1 | Deficit in phonologic short-term memory | OMIM:606711 | |
Presenile Dementia, Kraepelin Type | Dementia | OMIM:176600 | |
7q11.23 duplication syndrome | Short attention span | DECIPHER:43 | |
Monoamine Oxidase A Deficiency | Cognitive impairment | ORPHA:3057 | |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant | Dementia, Cognitive impairment | OMIM:618564 | |
Alzheimer Disease 10 | Memory impairment, Dementia | OMIM:609636 | |
Schizophrenia 19 | Cognitive impairment | OMIM:617629 | |
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration | Cognitive impairment | OMIM:614934 | |
Bulimia Nervosa, Susceptibility To | Bulimia | OMIM:607499 | |
Spinocerebellar Ataxia Type 27 | Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia | ORPHA:98764 | |
Parkinson Disease 17 | Akinesia | OMIM:614203 | |
Renal Glucosuria | Polydipsia, Polyphagia | OMIM:233100 | |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome | Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... | ORPHA:240094 | |
Spinocerebellar Ataxia Type 21 | Progressive cerebellar ataxia, Akinesia, Gait ataxia | ORPHA:98773 | |
Atypical Juvenile Parkinsonism | Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait | ORPHA:391411 | |
Type 1 Diabetes Mellitus | Polydipsia, Polyphagia | OMIM:222100 | |
Acquired Central Diabetes Insipidus | Polydipsia | ORPHA:95626 | |
Congenital Myopathy 9A | Akinesia | OMIM:618822 | |
Spinocerebellar Ataxia 21 | Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia | OMIM:607454 | |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism | Freezing of gait, Akinesia | OMIM:619911 | |
Corticobasal Syndrome | Gait disturbance, Akinesia | ORPHA:454887 | |
Kleine-Levin Syndrome | Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... | ORPHA:33543 | |
Arthrogryposis Multiplex Congenita 6 | Akinesia | OMIM:619334 | |
Anterior Cutaneous Nerve Entrapment Syndrome | Inguinal hernia, Somatic sensory dysfunction, Impaired tactile sensation, Hyperesthesia, Decrease... | ORPHA:51890 | |
Hereditary Central Diabetes Insipidus | Polydipsia | ORPHA:30925 | |
Lethal Congenital Contracture Syndrome 2 | Akinesia | OMIM:607598 | |
Senior-Loken Syndrome 4 | Polydipsia | OMIM:606996 | |
Sporadic Adult-Onset Ataxia Of Unknown Etiology | Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait | ORPHA:247234 | |
Perry Syndrome | Short stepped shuffling gait, Akinesia | OMIM:168605 | |
Neurodegeneration With Brain Iron Accumulation 5 | Akinesia | OMIM:300894 | |
Mitochondrial Complex I Deficiency, Nuclear Type 28 | Choreoathetosis, Akinesia, Truncal ataxia | OMIM:618249 | |
Manganese Poisoning | Gait disturbance, Akinesia | ORPHA:306682 | |
Kufor-Rakeb Syndrome | Akinesia, Ataxia, Gait disturbance | OMIM:606693 | |
Central Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:178029 | |
Classic Progressive Supranuclear Palsy Syndrome | Falls, Gait imbalance, Akinesia | ORPHA:240071 | |
Nephronophthisis-Like Nephropathy 2 | Polydipsia | OMIM:619468 | |
Parkinson Disease 23, Autosomal Recessive Early-Onset | Akinesia | OMIM:616840 | |
Congenital Myopathy 12 | Akinesia | OMIM:612540 | |
Fetal Akinesia Deformation Sequence | Akinesia | ORPHA:994 | |
Teratoma, Pineal | Polydipsia | OMIM:273120 | |
Multiple Pterygium Syndrome, Lethal Type | Akinesia | OMIM:253290 | |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome | Akinesia | OMIM:225790 | |
Aceruloplasminemia | Akinesia, Ataxia, Limb ataxia, Gait ataxia | ORPHA:48818 | |
Postencephalitic Parkinsonism | Akinesia | ORPHA:97349 | |
Familial Cold Urticaria | Polydipsia | ORPHA:47045 | |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness | Akinesia | OMIM:619147 | |
Bardet-Biedl Syndrome 9 | Polydipsia, Polyphagia | OMIM:615986 | |
Ochoa Syndrome | Polydipsia | ORPHA:2704 | |
Hereditary Late-Onset Parkinson Disease | Shuffling gait, Akinesia | ORPHA:411602 | |
Gaucher Disease, Perinatal Lethal | Akinesia | OMIM:608013 | |
Familial Hyperaldosteronism Type I | Polydipsia | ORPHA:403 | |
Nephronophthisis 4 | Polydipsia | OMIM:606966 | |
Hyperaldosteronism, Familial, Type Iii | Polydipsia | OMIM:613677 | |
Supranuclear Palsy, Progressive, 2 | Falls, Gait imbalance, Akinesia | OMIM:609454 | |
Senior-Loken Syndrome 3 | Polydipsia | OMIM:606995 | |
Arthrogryposis Multiplex Congenita 5 | Akinesia | OMIM:618947 | |
Cystinosis | Polydipsia, Abnormal repetitive mannerisms | ORPHA:213 | |
East Syndrome | Polydipsia, Salt craving | ORPHA:199343 | |
Supranuclear Palsy, Progressive, 1 | Falls, Gait imbalance, Akinesia | OMIM:601104 | |
Diabetes Insipidus, Nephrogenic, 2, Autosomal | Polydipsia | OMIM:125800 | |
Diabetes Insipidus, Nephrogenic, 1, X-Linked | Polydipsia | OMIM:304800 | |
Familial Hyperaldosteronism Type Iii | Polydipsia | ORPHA:251274 | |
Pediatric-Onset Graves Disease | Hyperactivity, Polydipsia, Polyphagia | ORPHA:525731 | |
Nephronophthisis 3 | Polydipsia | OMIM:604387 | |
Neurodegeneration With Brain Iron Accumulation 1 | Choreoathetosis, Akinesia, Ataxia, Gait disturbance | OMIM:234200 | |
Bardet-Biedl Syndrome 17 | Polydipsia | OMIM:615994 | |
Nephrogenic Diabetes Insipidus | Polydipsia, Anorexia | ORPHA:223 | |
Nephronophthisis 1 | Polydipsia | OMIM:256100 | |
Primary Unilateral Adrenal Hyperplasia | Polydipsia | ORPHA:231580 | |
Dpagt1-Cdg | Inability to walk, Ataxia, Akinesia | ORPHA:86309 | |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome | Polydipsia | ORPHA:369929 | |
Nephronophthisis 11 | Polydipsia | OMIM:613550 | |
Apparent Mineralocorticoid Excess | Polydipsia | ORPHA:320 | |
Whipple Disease | Polydipsia, Anorexia | ORPHA:3452 | |
Senior-Loken Syndrome 1 | Polydipsia | OMIM:266900 | |
Septo-Optic Dysplasia Spectrum | Polydipsia | ORPHA:3157 | |
Brain-Lung-Thyroid Syndrome | Hyperactivity, Abnormal drinking behavior, Compulsive behaviors, Abnormal eating behavior | ORPHA:209905 | |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance | Polydipsia, Salt craving | OMIM:612780 | |
Renal Hypoplasia | Polydipsia | ORPHA:93101 | |
Senior-Boichis Syndrome | Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior | ORPHA:84081 | |
Helix Syndrome | Polydipsia | OMIM:617671 | |
Hyperparathyroidism, Neonatal Severe | Polydipsia | OMIM:239200 | |
Pituitary Dermoid And Epidermoid Cysts | Polydipsia | ORPHA:91351 | |
African Trypanosomiasis | Choreoathetosis, Difficulty walking, Gait disturbance, Akinesia | ORPHA:3385 | |
Panhypophysitis | Polydipsia | ORPHA:95513 | |
Gitelman Syndrome | Polydipsia, Salt craving | OMIM:263800 | |
Oligomeganephronia | Polydipsia | ORPHA:2260 | |
Toxic Epidermal Necrolysis | Polydipsia, Dysphagia | ORPHA:537 | |
Rabson-Mendenhall Syndrome | Polydipsia | ORPHA:769 | |
Hypomagnesemia 3, Renal | Polydipsia | OMIM:248250 | |
Infantile Nephropathic Cystinosis | Polydipsia | ORPHA:411629 | |
Erdheim-Chester Disease | Polydipsia | ORPHA:35687 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia | ORPHA:293987 | |
Hyperparathyroidism-Jaw Tumor Syndrome | Polydipsia, Dysphagia | ORPHA:99880 | |
Parathyroid Carcinoma | Polydipsia, Dysphagia | ORPHA:143 | |
Wolfram Syndrome | Polydipsia | ORPHA:3463 | |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease | Polydipsia | ORPHA:93111 | |
Distal Renal Tubular Acidosis | Polydipsia | ORPHA:18 | |
Arima Syndrome | Polydipsia | OMIM:243910 | |
Cystinosis, Nephropathic | Polydipsia, Dysphagia, Oral-pharyngeal dysphagia | OMIM:219800 | |
Juvenile Nephropathic Cystinosis | Polydipsia | ORPHA:411634 | |
Gitelman Syndrome | Polydipsia, Salt craving | ORPHA:358 | |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness | Polydipsia | OMIM:602522 | |
Proximal Renal Tubular Acidosis | Polydipsia | ORPHA:47159 | |
Autosomal Recessive Polycystic Kidney Disease | Polydipsia | ORPHA:731 | |
Bartter Syndrome, Type 2, Antenatal | Polydipsia | OMIM:241200 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Grm5em1(IMPC)H | Exon Deletion | Mice |
Grm5tm42681(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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