Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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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Viewing: all phenotypes

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

15 Images

Anti-nuclear antibody assay

Images

6 Images

Legacy Phenotype Associated Images

View all 86 images

View all 9 images

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
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
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
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
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
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Gait disturbance, Paresthesia, Insulin resi... ORPHA:2398
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Persistent Idiopathic Facial Pain
Depression, Anxiety, Somatic sensory dysfunction, Paresthesia, Impaired pain sensation ORPHA:398147
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Macular Degeneration, X-Linked Atrophic
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
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior ORPHA:356996
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy... ORPHA:293964
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
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
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, Motor deterior... ORPHA:412066
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Adiposis Dolorosa
Depression, Obesity, Anxiety, Painful subcutaneous lipomas OMIM:103200
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Chorea, Athetosis, Dementia OMIM:615483
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Chorea, Aggressive behavior, Unsteady gait, Dementia OMIM:603218
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Mental deterioration, Anxiety, Difficulty walking OMIM:619191
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Anxiety, Inappropriate behavior, Chorea, Memory impairment ORPHA:401901
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Emotional lability OMIM:309585
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Bardet-Biedl Syndrome 12
Obesity, Cognitive impairment OMIM:615989
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus ORPHA:79084
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus OMIM:613877
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Ata... ORPHA:363400
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Chorea, Weight loss, Irritability, Dementia OMIM:606438
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age OMIM:601820
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased adipose t... ORPHA:71529
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Lipodystrophy, Diabetes mellitus,... OMIM:612526
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Aggressive behavior ORPHA:329249
Narcolepsy Type 1
Transient global amnesia, Obesity ORPHA:2073
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Bardet-Biedl Syndrome 10
Obesity, Cognitive impairment OMIM:615987
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Cognitive impairment, Memory impairment, Obesity ORPHA:369873
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Shuffling gait, Aggressive behavior, Ob... ORPHA:3077
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Progressive neurologic... ORPHA:276608
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Ataxia, Unsteady gait, Cognitive impairment OMIM:614947
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Ataxia, Self-injurious behavior, Aggressive behavior OMIM:616116
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Lipodystro... ORPHA:435660
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... OMIM:608600
Bardet-Biedl Syndrome 5
Obesity, Cognitive impairment OMIM:615983
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Anxiety, Aggressive behavior, Obesity, Failure to thrive in infancy OMIM:613670
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Lipodystrophy, Increased intraabdominal fat, Insulin-resistant diabetes mellitus ORPHA:79085
Mehmo Syndrome
Inability to walk, Small for gestational age, Hypoglycemia, Difficulty walking, Gait ataxia, Aggr... OMIM:300148
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizures, Incr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizures, Incr... ORPHA:71526
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... ORPHA:324575
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Insulinoma
Transient global amnesia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight,... ORPHA:97279
Congenital Generalized Lipodystrophy
Failure to thrive, Hyperinsulinemia, Proportionate tall stature, Lipodystrophy, Adipose tissue lo... ORPHA:528
Ataxia-Oculomotor Apraxia Type 4
Obesity, Ataxia, Cognitive impairment, Somatic sensory dysfunction ORPHA:459033
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, Obesity, Inappropriate laughter ORPHA:411515
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Anxiety OMIM:618725
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus OMIM:144800
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Inguinal hernia, Dysmetria, Cognitive impairment, Dysdiadochokinesis, T... OMIM:616541
Pigmented Nodular Adrenocortical Disease, Primary, 4
Depression, Emotional lability, Diabetes mellitus, Increased body weight, Dorsocervical fat pad OMIM:615830
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Type II diabetes mellitus, Hyperinsulinemia, Hyp... ORPHA:2298
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Maternal diabetes, Loss of facial adipose tissue, Insulin-resistant diabetes mellitu... ORPHA:79083
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Small for gestational age, Truncal obesity, Hypoglycemia, Insulin resistance ORPHA:73272
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Cellulitis, Lipodystrophy, Diabetes mellitus, Insulin resistance, Loss of subcutaneo... ORPHA:2348
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue ORPHA:199276
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Flexion contracture, Diabetes mellitus OMIM:615381
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Loss of ambulation, Ataxia, Distal sensory impairment, Unsteady gait, Obesity, Impaired pain sens... OMIM:618124
Leptin Receptor Deficiency
Obesity, Aggressive behavior, Diabetes mellitus OMIM:614963
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Abn... ORPHA:276580
Summitt Syndrome
Obesity OMIM:272350
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly... ORPHA:552
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Increased body weight, Increased body mass index, Omphalocele OMIM:614450
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Depression, Memory impairment, Suicidal ideation, Diabetes mellitus, Obesity ORPHA:77296
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Increased body weight, Abdominal obesity, Hyperglycemia OMIM:615954
Primary Lipodystrophy
Insulin resistance, Lipodystrophy, Type II diabetes mellitus, Lipoatrophy ORPHA:90970
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Tip-toe gait, Impaired vibration sensation in the lower limbs, Mental deterioration, Obes... OMIM:604360
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Lipod... ORPHA:280365
Central Precocious Puberty
Increased body weight, Obesity, Overgrowth ORPHA:759
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Dysmetria, Small for... OMIM:606721
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Large for gestational ... ORPHA:276575
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... ORPHA:263455
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Flexion contracture, Wrist flexion contracture, Shuffling gait, Choreoathetosis, Emotiona... OMIM:300055
Bangstad Syndrome
Progressive cerebellar ataxia, Insulin-resistant diabetes mellitus, Small for gestational age OMIM:210740
Whipple Disease
Depression, Cachexia, Ataxia, Insulin resistance ORPHA:3452
Intellectual Developmental Disorder, X-Linked 107
Obesity, Anxiety, Aggressive behavior OMIM:301013
Werner Syndrome
Slender build, Type II diabetes mellitus, Lipoatrophy, Chondrocalcinosis, Lipodystrophy, Insulin ... ORPHA:902
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Depression, Anxiety, Gait disturbance, Overweight ORPHA:457240
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age, Type II diabetes mellitus, Diabetes mellitus OMIM:274300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... OMIM:262190
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Large for gestati... ORPHA:276556
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Generalized lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resista... ORPHA:79086
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Obesity, Depression ORPHA:238624
Silver-Russell Syndrome
Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thrive in infancy ORPHA:813
Wilson Disease
Failure to thrive, Depression, Difficulty walking, Hypersexuality, Aggressive behavior, Increased... ORPHA:905
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Type II diabetes mellitus, Cognitive impairment, Depressi... ORPHA:189439
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Bardet-Biedl Syndrome 1
Abdominal obesity, Gait imbalance, Ataxia, Truncal obesity, Diabetes mellitus, Insulin resistance... OMIM:209900
Joubert Syndrome 32
Large for gestational age, Ataxia, Tall stature OMIM:617757
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio ORPHA:94086
Adiposis Dolorosa
Depression, Anxiety, Memory impairment, Paresthesia, Obesity ORPHA:36397
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Flexion contracture, Lipodystrophy, Insulin resistance OMIM:613327
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Obesity, Inappropriate laughter ORPHA:411511
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Emotional lability ORPHA:179494
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Self-mutilation, Camptodactyly, Obesity, Impa... ORPHA:412035
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Cognitive impairment, Depression, Memory impairment, Emot... ORPHA:189427
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Insulin resistance, Diabetic ket... ORPHA:769
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Progressive language deterioration, Self-mutilation, Mental deterioration, Low frustratio... ORPHA:163681
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Aromatase Deficiency
Type II diabetes mellitus, Eunuchoid habitus, Tall stature, Insulin resistance, Obesity ORPHA:91
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Smith-Magenis Syndrome
Increased body weight, Head-banging, Impaired pain sensation, Self-mutilation OMIM:182290
Adrenocortical Carcinoma
Anxiety, Panic attack, Diabetes mellitus, Increased body weight, Weight loss, Irritability ORPHA:1501
Seckel Syndrome 10
Glucose intolerance, Glycosuria, Impaired glucose tolerance, Diabetes mellitus, Insulin resistance OMIM:617253
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Abnormal fear/anxiety-related behavior, Impaired glucose ... OMIM:219090
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Mental deterioration, Memory impairment, Gait disturbance, Emotional l... ORPHA:2822
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Self-injurious behavior, Aggressive behavior OMIM:300860
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Perrault Syndrome 4
Obesity, Gait ataxia, Disproportionate tall stature, Cognitive impairment OMIM:615300
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Akinesia OMIM:618822
Steinert Myotonic Dystrophy
Hyperinsulinemia, Inability to walk, Impairment in personality functioning, Cognitive impairment,... ORPHA:273
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy ORPHA:90154
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Bloom Syndrome
Abdominal obesity, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Insulin res... ORPHA:125
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestation... ORPHA:79644
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Anxiety, Aggressive behavior, Emotional lability, Obesity, Low frustration tolerance OMIM:612469
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Failure to thrive, Small for gestational age, Insulin resistance ORPHA:96182
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Overgrowth, Large for gestational age, Umbilical hernia, Omphalocele ORPHA:254534
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline... ORPHA:508
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity OMIM:600955
Gitelman Syndrome
Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Diabetic ketoacidosis, Chondro... ORPHA:358
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Impulsivity, Flexion contracture... ORPHA:398069
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Cushing Disease
Abdominal obesity, Depression, Emotional lability, Panic attack, Truncal obesity, Impaired glucos... ORPHA:96253
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Sotos Syndrome
Glucose intolerance, Tall stature, Overgrowth, Aggressive behavior, Neonatal hypoglycemia, Increa... OMIM:117550
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
1P21.3 Microdeletion Syndrome
Obesity, Self-injurious behavior, Aggressive behavior, Self-mutilation ORPHA:293948
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Absence of subcutaneous fat, Shuffling gait, Insulin resistance, Weight... ORPHA:740
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Recurrent hypoglycemia, Increased body weight, Fasting hypoglycemia ORPHA:79240
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Depression, Anxiety, Panic attack, Truncal obesity, Impaired glucose tolerance... ORPHA:99889
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Increased body weight, Hypoglycemia, Failure to thrive ORPHA:264580
Joubert Syndrome 39
Pain insensitivity, Overweight, Joint contracture of the 5th finger OMIM:619562
Pmm2-Cdg
Failure to thrive, Multiple joint contractures, Hyperinsulinemia, Ataxia, Lipodystrophy, Insulin ... ORPHA:79318
Alström Syndrome
Ataxia, Hyperinsulinemia, Type II diabetes mellitus, Cognitive impairment, Truncal obesity, Somat... ORPHA:64
Hellp Syndrome
Increased body weight ORPHA:244242
Carney Complex
Abdominal obesity, Increased body weight, Dorsocervical fat pad, 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 4 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
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)