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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 Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 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 dystrophy, Cone/cone-rod dystrophy OMIM:300085
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Retinitis Pigmentosa 24
Rod-cone dystrophy, Cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen 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, Paresthesia, Multiple lipomas, Gait disturbance, Abnormal adipose tissue morp... ORPHA:2398
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy OMIM:215500
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1852
Late-Onset Retinal Degeneration
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... OMIM:605670
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... OMIM:180210
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Large for gestational age, Nonketotic hypoglycemia, Truncal obesity, Hy... ORPHA:293964
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Emotional labi... ORPHA:66624
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Coloboma Of Macula
Macular coloboma OMIM:120300
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Progressive psychomotor deterioration, Generalized lipodystrophy, Hyperinsuli... ORPHA:363400
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... OMIM:613194
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... ORPHA:179
Obesity Due To Sim1 Deficiency
Memory impairment, Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit ... ORPHA:369873
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity, Depression OMIM:103200
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus OMIM:613877
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:256450
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Polyphagia, Hyperinsulinemia, Obesity OMIM:617885
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... OMIM:600059
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
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
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi... ORPHA:3077
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy... OMIM:612526
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity, Polyphagia OMIM:618406
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... ORPHA:209943
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Diabetes mellitus, Abdominal obesity OMIM:615980
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... OMIM:616188
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous OMIM:193230
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Hyperin... ORPHA:276608
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity, Ataxia OMIM:620270
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity, Polyphagia OMIM:620195
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Short attention span, Fasting hypoglycemia ORPHA:171706
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder, X-Linked 108
Difficulty walking, Attention deficit hyperactivity disorder, Overweight, Broad-based gait OMIM:301024
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Obesity, Polyphagia, Childhood-onset truncal obesity, Hypogl... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Obesity, Polyphagia, Childhood-onset truncal obesity, Hypogl... ORPHA:71526
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia, Diabetes ... OMIM:614963
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus... ORPHA:435660
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Short attention span, Attention deficit hype... ORPHA:73272
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Increased intraabdominal fat, Lipodystrophy, Insulin-resistant diabetes mellitus ORPHA:79085
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg... OMIM:614292
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Large for gestational age, Aggressive behavior, Ataxia, Agitation OMIM:616116
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Progressive neurologic deterioration, Joint contracture of the hand, Failure ... OMIM:214150
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivit... ORPHA:411515
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Obesity, Short attention span, Cognitive impairment, Ataxia ORPHA:459033
Mehmo Syndrome
Hypoglycemia, Difficulty walking, Inability to walk, Obesity, Gait ataxia, Aggressive behavior, S... OMIM:300148
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:276580
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Hyperinsulinemia, Adipose tissue loss, Lipodystrophy, Prop... ORPHA:528
Insulinoma
Transient global amnesia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Par... ORPHA:97279
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Broad-based gait, Inguinal hernia, Dysmetria, Gait disturbance, Cognitive imp... OMIM:616541
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Spastic Paraplegia 11, Autosomal Recessive
Mental deterioration, Tip-toe gait, Obesity, Impaired vibration sensation in the lower limbs, Ata... OMIM:604360
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Joint contractur... OMIM:615381
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Dorsocervical fat pad, Emotional lability, Increased body weight, Diabetes mellitus OMIM:615830
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Maternal ... ORPHA:79083
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Increased body weight, Attention deficit hyperactivity disorder, Diabe... OMIM:274300
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Lipo... ORPHA:2348
Familial Multiple Lipomatosis
Insulin resistance, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:276575
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Hyperglycemia, Depression, Abdominal obesity OMIM:615954
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Glucose intolerance, Lar... ORPHA:552
Hyperinsulinism Due To Ucp2 Deficiency
Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for gestational age, Reactive hypoglycemi... ORPHA:276556
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Obesity, Distal sensory impairment, Loss of ambulation, Ataxia, Unsteady... OMIM:618124
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Whipple Disease
Insulin resistance, Ataxia, Depression, Polydipsia, Cachexia, Anorexia ORPHA:3452
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Broad-based gait, Omphalocele, Increased body mass index OMIM:614450
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Weight los... ORPHA:3163
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Attention deficit hyperactivity disorder, Gait disturbance, Impulsivity ORPHA:589905
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Increased body... ORPHA:263455
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Dysdiadochokinesis, Failure to thrive, Decreased ad... OMIM:606721
Narcolepsy Type 1
Transient global amnesia, Depression, Obesity, Restless legs, Attention deficit hyperactivity dis... ORPHA:2073
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Shuffling gait, Bruxism, Obesity, Emotional lability, Wrist flexion contracture, Ataxia, Spastic ... OMIM:300055
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Increased adipose tissue around the neck, Increased facial adipose tissue, In... ORPHA:280365
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity OMIM:301013
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Obesity, Aggressive behavior ORPHA:261229
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilati... ORPHA:163681
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Difficulty walking, Confus... ORPHA:100924
Morgagni-Stewart-Morel Syndrome
Memory impairment, Depression, Obesity, Cognitive impairment, Diabetes mellitus ORPHA:77296
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Slender build, Type II diabetes mellitus, Lipodystrophy, L... ORPHA:902
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Lipodystrophy, Flexion contracture, Dysp... OMIM:613327
Idiopathic Intracranial Hypertension
Abnormal emotion, Depression, Obesity ORPHA:238624
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:411511
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia, Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Depression, Self-mutilation, Gait disturbance, Overweight, Motor stereotypy ORPHA:457240
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Chorea, Cognitive impairment ORPHA:309246
Bardet-Biedl Syndrome 1
Insulin resistance, Ataxia, Obesity, Gait imbalance, Truncal obesity, Abdominal obesity, Diabetes... OMIM:209900
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Obesity, Emotional lability, Polyphagia ORPHA:179494
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Obesity, Cognitive impairment, Ataxia OMIM:616267
Smith-Magenis Syndrome
Pain insensitivity, Head-banging, Impaired pain sensation, Onychotillomania, Self-mutilation, Inc... OMIM:182290
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Glucose intolerance, Emotional lability, Abdominal obesi... OMIM:219090
Wilson Disease
Depression, Failure to thrive, Difficulty walking, Increased body weight, Aggressive behavior, We... ORPHA:905
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Obesity, Abnormal eating behavior, Short attention span, Inappropriate laughter... ORPHA:98794
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant diabetes mellitus, ... ORPHA:769
Blue Diaper Syndrome
Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia ORPHA:94086
Joubert Syndrome 32
Tall stature, Large for gestational age, Ataxia OMIM:617757
Laurence-Moon Syndrome
Obesity, Ataxia OMIM:245800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Depression, Memory impairment, Dorsocervical fat pad, Glucose intolerance, Emotional lability, In... ORPHA:189427
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Memory impairment, Inability to walk, Obesity, Short attention span, Emotio... ORPHA:2822
Seckel Syndrome 10
Insulin resistance, Glycosuria, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:617253
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Eunuchoid habitus ORPHA:91
13Q12.3 Microdeletion Syndrome
Failure to thrive, Impaired pain sensation, Obesity, Congenital diaphragmatic hernia, Self-mutila... ORPHA:412035
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Adiposis Dolorosa
Memory impairment, Obesity, Depression, Paresthesia ORPHA:36397
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Failure to thrive, Oral aversion, Fasting hypoglycemia, Small for gestational... ORPHA:96182
Wagro Syndrome
Obesity, Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsi... OMIM:612469
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus ORPHA:66628
Perrault Syndrome 4
Obesity, Gait ataxia, Cognitive impairment, Disproportionate tall stature OMIM:615300
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Obesity, Reactive hypoglycemia OMIM:600955
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Polydipsia, Failure to thrive, G... ORPHA:358
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... ORPHA:125
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Steinert Myotonic Dystrophy
Insulin resistance, Mental deterioration, Depression, Falls, Oral-pharyngeal dysphagia, Inability... ORPHA:273
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy ORPHA:90154
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior, Self-injurious behavior OMIM:300860
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Failure to thrive, Impaired temperature sensation, Type II diabetes mel... ORPHA:398069
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age ORPHA:254534
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hypogl... ORPHA:79644
Bardet-Biedl Syndrome
Insulin resistance, Depression, Obesity, Impaired fasting glucose, Type II diabetes mellitus, Emo... ORPHA:110
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperinsulinemia, Reduced subc... ORPHA:508
Adrenocortical Carcinoma
Increased body weight, Weight loss, Diabetes mellitus, Irritability ORPHA:1501
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Polyphagia, Obesity OMIM:609734
Sotos Syndrome
Tall stature, Glucose intolerance, Increased body weight, Overgrowth, Attention deficit hyperacti... OMIM:117550
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Glycosuria, Hypoglycemia OMIM:616026
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Cushing Disease
Depression, Memory impairment, Dorsocervical fat pad, Emotional lability, Increased body weight, ... ORPHA:96253
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Shuffling gait, Absence of subcutaneous fat, Severe failure to thrive, Weight... ORPHA:740
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Ketotic hypoglycemia, Fasting hypoglycemia, Recurrent hypoglycemia ORPHA:79240
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Hypoglycemia, Failure to thrive, Fasting hypoglycemia ORPHA:264580
Joubert Syndrome 39
Pain insensitivity, Overweight, Joint contracture of the 5th finger OMIM:619562
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Obesity, Emo... ORPHA:353281
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Memory impairment, Anorexia, Dorsocervical fat pad, Emotional lability, Increased bod... ORPHA:99889
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Corneal scar... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Keloids, Abnormal fear-induced behavior, Failure to thrive, Corneal scar... ORPHA:353277
Alström Syndrome
Insulin resistance, Somatic sensory dysfunction, Hyperinsulinemia, Dorsocervical fat pad, Type II... ORPHA:64
Pmm2-Cdg
Insulin resistance, Failure to thrive, Hyperinsulinemia, Multiple joint contractures, Abnormal su... ORPHA:79318
Hellp Syndrome
Increased body weight ORPHA:244242
Carney Complex
Increased body weight, Tall stature, Dorsocervical fat pad, Abdominal obesity 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)