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Gene: Grm8 MGI:1351345

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Gene Summary

Name:
glutamate receptor, metabotropic 8
Synonyms:
mGluR8,  Gprc1h

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Grm8tm2a(KOMP)Wtsi HOM   Early adult 7.97×10-05

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 Images

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Legacy Phenotype Associated Images
Grm8tm2a(KOMP)Wtsi
HOM, Male, WTSI
Grm8tm2a(KOMP)Wtsi
HOM, Male, WTSI
Grm8tm2a(KOMP)Wtsi
HOM, Female, WTSI
Grm8tm2a(KOMP)Wtsi
HOM, Female, WTSI
Grm8tm2a(KOMP)Wtsi
HOM, Female, WTSI

View all 86 images

Grm8tm2a(KOMP)Wtsi
left eye, HOM, Female, WTSI
Grm8tm2a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Grm8tm2a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Grm8tm2a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI
Grm8tm2a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Male, WTSI

View all 9 images

Grm8tm2a(KOMP)Wtsi
HOM, Female, WTSI

Human diseases caused by Grm8 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 Grm8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Choroidal Dystrophy, Central Areolar, 3
Drusen, Chorioretinal atrophy OMIM:613144
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait disturbance, Pares... ORPHA:2398
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II diabetes mellitus, Child... ORPHA:71529
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Coloboma Of Macula
Macular coloboma OMIM:120300
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Ataxia, Reduced intraabdominal adipose tissue... ORPHA:363400
Adiposis Dolorosa
Depression, Obesity, Painful subcutaneous lipomas OMIM:103200
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Insulin resistance, Obesity OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age OMIM:256450
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Emotional lability, Obesity OMIM:309585
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Lipodystrophy, Lipoatrophy OMIM:613877
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Insulin resistance, Hyperinsulinemia, Obesity OMIM:617885
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... OMIM:612526
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abdominal obesity, Diabetes mellitus, Lipodystrophy OMIM:615980
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Obesity, Aggressive behavior OMIM:620270
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Cogniti... ORPHA:369873
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Increased body wei... ORPHA:276608
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Short attention span, Obesity, Fasting hypoglycemia ORPHA:171706
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Polyphagia, Failure t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Polyphagia, Failure t... ORPHA:71526
Leptin Receptor Deficiency
Diabetes mellitus, Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Po... OMIM:614963
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... ORPHA:324575
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Insulin-resistant diabetes mellitus,... ORPHA:435660
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance,... ORPHA:73272
Intellectual Developmental Disorder, X-Linked 108
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder OMIM:301024
Akt2-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Lipodystrophy, Increased intraabdominal fat ORPHA:79085
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Intellectual Developmental Disorder, Autosomal Recessive 46
Ataxia, Aggressive behavior, Large for gestational age, Self-injurious behavior, Agitation OMIM:616116
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Progressive neurologic deterioration, Insulin resistance, Flexion cont... OMIM:214150
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... ORPHA:411515
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures... ORPHA:276580
Mehmo Syndrome
Small for gestational age, Hypoglycemia, Aggressive behavior, Inability to walk, Obesity, Gait at... OMIM:300148
Ataxia-Oculomotor Apraxia Type 4
Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment ORPHA:459033
Congenital Generalized Lipodystrophy
Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, Hyperinsulinemia, Prop... ORPHA:528
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Incre... ORPHA:97279
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Insulin resistance, Dysmetria, Trun... OMIM:616541
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe... OMIM:604360
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Insulin resistanc... OMIM:615381
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Depression, Emotional lability OMIM:615830
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Maternal diabetes, ... ORPHA:79083
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Insu... ORPHA:2348
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:2298
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue ORPHA:199276
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Fasting hypoglycem... ORPHA:276575
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Abdominal obesity, Increased body weight, Hyperglycemia OMIM:615954
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes mellitus, A... OMIM:274300
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul... OMIM:618124
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Summitt Syndrome
Obesity OMIM:272350
Whipple Disease
Ataxia, Cachexia, Anorexia, Insulin resistance, Depression, Polydipsia ORPHA:3452
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity ORPHA:589905
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Familial Renal Glucosuria
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria ORPHA:69076
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Progressive neurologic deterioration, Large for gestational age, Hyperinsulinemia, Increased body... ORPHA:263455
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Flexion contracture, Obesity, Choreoathetosis, Shuffling gait, Bruxism, Emo... OMIM:300055
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Obesity, Low frustration tolera... ORPHA:163681
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, A... ORPHA:100924
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Obesity, Depression, Cognitive impairment, Memory impairment ORPHA:77296
Idiopathic Intracranial Hypertension
Abnormal emotion, Obesity, Depression ORPHA:238624
Werner Syndrome
Lipoatrophy, Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Slender build, Chondro... ORPHA:902
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Dysphagia, Failure to t... OMIM:613327
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... ORPHA:411511
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... OMIM:262190
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment OMIM:616267
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia ORPHA:813
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Emotional lability, Polyphagia ORPHA:179494
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... ORPHA:79086
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Depression, Gait disturbance, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment ORPHA:309246
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity OMIM:615981
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Insulin resistance, Obesity, Truncal obesity, Abdominal obesity, Gait ... OMIM:209900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue t... ORPHA:98794
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... OMIM:182290
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... ORPHA:769
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Depression, Difficulty w... ORPHA:905
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
Joubert Syndrome 32
Ataxia, Tall stature, Large for gestational age OMIM:617757
Laurence-Moon Syndrome
Ataxia, Obesity OMIM:245800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Increased body weight, Depression, Memory impairment, Glucose intolerance,... ORPHA:189427
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Memory impairment, Dementia... ORPHA:2822
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Glycosuria OMIM:617253
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Impaired pain sensation, Obesity, Camptodactyly, ... ORPHA:412035
Aromatase Deficiency
Eunuchoid habitus, Insulin resistance, Obesity, Type II diabetes mellitus, Tall stature ORPHA:91
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Insulin-resistant diabetes mellitus,... ORPHA:435651
Adiposis Dolorosa
Memory impairment, Paresthesia, Obesity, Depression ORPHA:36397
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Insulin resistance, Fasting hypoglycemia, Oral aversion, Failure to th... ORPHA:96182
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity ORPHA:66628
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Emotion... OMIM:612469
Perrault Syndrome 4
Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia OMIM:615300
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy ORPHA:90154
Gitelman Syndrome
Salt craving, Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ketoacidosis, ... ORPHA:358
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Steinert Myotonic Dystrophy
Short attention span, Diabetes mellitus, Oral-pharyngeal dysphagia, Aggressive behavior, Inabilit... ORPHA:273
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Obesity OMIM:610628
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Obesity, Glucose intolerance, Abdominal obesity, Emotional lability OMIM:219090
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Impaired temperature sensation, Flexion contracture, Increased body weight, Abdomina... ORPHA:398069
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Recurrent infantile hy... ORPHA:508
Adrenocortical Carcinoma
Irritability, Diabetes mellitus, Increased body weight, Weight loss ORPHA:1501
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity, Hypoglycemic seizures OMIM:609734
Sotos Syndrome
Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent... OMIM:117550
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Neonatal hypoglycemia, Large for gestation... ORPHA:79644
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age OMIM:616026
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Increased body weight, Depr... ORPHA:96253
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Absence of subcutaneous fat, Weight loss, Shuffling gait, Severe failure to t... ORPHA:740
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Fasting hypoglycemia, Increased body weight, Ketotic hypoglycemia ORPHA:79240
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypoglycemia, Increased body weight, Fasting hypoglycemia ORPHA:264580
Joubert Syndrome 39
Overweight, Pain insensitivity, Joint contracture of the 5th finger OMIM:619562
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Emotion... ORPHA:353281
Cushing Syndrome Due To Ectopic Acth Secretion
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Anorexia, Increased body we... ORPHA:99889
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353277
Alström Syndrome
Somatic sensory dysfunction, Ataxia, Dorsocervical fat pad, Insulin resistance, Hyperinsulinemia,... ORPHA:64
Pmm2-Cdg
Multiple joint contractures, Ataxia, Lipodystrophy, Insulin resistance, Abnormal subcutaneous fat... ORPHA:79318
Hellp Syndrome
Increased body weight ORPHA:244242
Carney Complex
Abdominal obesity, Dorsocervical fat pad, Increased body weight, Tall stature ORPHA:1359

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 Grm8

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 Grm8.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Grm8tm2a(KOMP)Wtsi PMC7263671
Functional analysis of candidate genes from genome-wide association studies of hearing. Hearing research (January 2020) Grm8tm2a(KOMP)Wtsi PMC6996162
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Grm8tm2a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Grm8tm2a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Grm8tm2a(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Grm8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Grm8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Grm8tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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