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Gene: Ntsr1 MGI:97386

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
neurotensin receptor 1
Synonyms:
NTR1,  NTR-1,  Ntsr1,  NT-1R

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ntsr1 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 Ntsr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Tall stature OMIM:618406
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Obesity And Hypopigmentation
Overgrowth, Polyphagia, Obesity OMIM:620195
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever ORPHA:183713
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Deafness-Vitiligo-Achalasia Syndrome
Achalasia ORPHA:3239
Schizophrenia 15
Hyperactivity OMIM:613950
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity ORPHA:71526
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... OMIM:611376
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior OMIM:614963
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Ataxia, Hypothermia ORPHA:29822
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Developmental And Epileptic Encephalopathy 78
Chorea, Hypothermia OMIM:618557
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Posterior Column Ataxia With Retinitis Pigmentosa
Ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Sensory ataxia,... OMIM:609033
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Riboflavin Deficiency
Poor suck, Hypothermia OMIM:615026
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Primary Erythromelalgia
Hypothermia ORPHA:90026
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Immunodeficiency 70
Celiac disease, Achalasia, Colitis OMIM:618969
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Pontiac Fever
Fever ORPHA:99748
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Temple Syndrome
Small for gestational age, Polyphagia, Obesity ORPHA:254516
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276556
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Skin-picking, Camptodact... OMIM:615547
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Agitation, Polyphagia, Large for gestational age ORPHA:324575
Triple A Syndrome
Achalasia, Ataxia ORPHA:869
Cyclic Neutropenia
Fever OMIM:162800
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276575
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Dystonia-Deafness Syndrome 1
Achalasia, Pseudobulbar paralysis, Dysphagia OMIM:607371
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276580
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... ORPHA:1018
Tetrasomy 18P
Achalasia ORPHA:3307
American Trypanosomiasis
Fever, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Acha... ORPHA:3386
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Feeding difficulties in infancy, Exaggerated startle response, Gastroesophageal reflux, Hypothermia OMIM:608800
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Hypothermia ORPHA:168593
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... ORPHA:2241
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Constipation, Hypothermia ORPHA:95717
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
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Feeding difficulties OMIM:614654
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Gastrostomy tube feeding in infancy, Feeding difficulties, Chronic ... OMIM:619482
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia ORPHA:436174
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Cholangiocarcinoma
Fever, Anorexia ORPHA:70567
Undifferentiated Pleomorphic Sarcoma
Fever, Anorexia ORPHA:2023
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Scleromyxedema
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Dysphagia, Hypoperistalsis ORPHA:167635
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity, Aggressive behavior OMIM:616831
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Dysphagia ORPHA:79107
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Intermittent hypothermia, Feeding difficulties in infancy, Diarrhea... OMIM:608643
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia ORPHA:289483
Meningococcal Meningitis
Fever, Projectile vomiting, Hypothermia, Anorexia, Paresthesia ORPHA:33475
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abd... ORPHA:226313
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia OMIM:606407
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Progressive Nodular Histiocytosis
Fever ORPHA:158022
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Feeding difficulties OMIM:614498
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Feeding difficulties OMIM:245400
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Polyphagia, Tall stature OMIM:300942
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency OMIM:615952
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Obesity ORPHA:66628
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Periodic fever OMIM:617772
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Insulinoma
Polyphagia, Increased body weight ORPHA:97279
Summitt Syndrome
Obesity OMIM:272350
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Obesity ORPHA:179494
Familial Thyroid Dyshormonogenesis
Feeding difficulties in infancy, Constipation, Hypothermia ORPHA:95716
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Achalasia, Gastroesophageal reflux, Feeding difficulties OMIM:600987
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Central Hypoventilation Syndrome, Congenital, 1
Abnormality of temperature regulation, Aganglionic megacolon, Feeding difficulties, Chronic const... OMIM:209880
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... ORPHA:72
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Hypothermia, Impaired distal vibration sensation, Impaired proprioception, Malnutrition, ... ORPHA:99027
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Somatic sensory dysfunction, Esophageal stenosis, Ataxia, Feeding difficulties, Dysphagia, Achalasia OMIM:615510
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Self-injurious behavior, Agitation, Aggressive behavior OMIM:616116
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis OMIM:613834
Hyperthermia, Cutaneous, With Headaches And Nausea
Fever OMIM:145590
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Anorexia, Abdominal pain, Nausea, Abdominal distention, Impaired tac... ORPHA:51890
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Ataxia, Chorea, Feeding difficulties, Athetosis, Esophagitis, Truncal ataxia, Achalasia OMIM:615356
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Abnormal dental enamel morphology, Obesity ORPHA:251004
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Recurrent hand flapping, Pica, Tall stature OMIM:615032
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Constipation, Hypothermia OMIM:618493
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Abnormal temper tantr... ORPHA:398069
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Pediatric-Onset Graves Disease
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia, Ataxia OMIM:231550
Chronic Recurrent Multifocal Osteomyelitis 3
Fever OMIM:259680
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Sim1-Related Prader-Willi-Like Syndrome
Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrums, Failure to thrive, Polyphagia ORPHA:398079
Menkes Disease
Hypothermia OMIM:309400
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... ORPHA:177901
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormality of temperature regulation, Heat intolerance ORPHA:2926
Mirage Syndrome
Achalasia, Chronic diarrhea, Gastroesophageal reflux, Esophageal stricture OMIM:617053
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Timothy Syndrome
Hypothermia OMIM:601005
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal temper tantrums, S... ORPHA:98754
Periodic Fever, Menstrual Cycle-Dependent
Fever OMIM:614674
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Ataxia, Hypothermia, Anorexia, Reye syndrome-like episodes, Diarrhea, Episodic vomiting ORPHA:20
Genetic Transient Congenital Hypothyroidism
Constipation, Hypothermia, Feeding difficulties ORPHA:226316
Congenital Enterovirus Infection
Fever, Hepatic failure, Hypothermia ORPHA:292
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Ataxia, Hypothermia, Chorea, Gait ataxia, Dysphagia, Hepatic failure, Episodic vomiting ORPHA:255210
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of temperature regulation ORPHA:98757
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pain insensitivity, Achalasia, Distal sensory impairment OMIM:616007
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Alexander Disease
Nausea and vomiting, Ataxia, Hypothermia, Bowel incontinence, Chorea, Constipation, Dysphagia ORPHA:58
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Isolated Congenital Alacrima
Achalasia ORPHA:91416
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... ORPHA:404448
Prader-Willi Syndrome
Failure to thrive in infancy, Obesity, Self-injurious behavior, Abdominal obesity, Attention defi... OMIM:176270
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... OMIM:608594
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Feeding difficulties in infancy, Hypothermia OMIM:618775
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Weaver Syndrome
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... OMIM:277590
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Feeding difficulties in infancy, Hepatic failure, Vomiting, Hypothermia OMIM:251880
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Intestinal per... OMIM:603041
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Hypothermia ORPHA:159
Malignant Hyperthermia, Susceptibility To, 5
Fever, Malignant hyperthermia OMIM:601887
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Hypothermia, Feeding difficulties ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Hypothermia, Feeding difficulties OMIM:618329
Ethylene Glycol Poisoning
Gastritis, Ataxia, Hypothermia, Vomiting, Nausea ORPHA:31826
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Chorea, Vomiting, Dysphagia, Nausea, Nasogastric tube feeding ORPHA:94093
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting, Hypothermia ORPHA:230
Hypothyroidism Due To Tsh Receptor Mutations
Feeding difficulties in infancy, Constipation, Hypothermia ORPHA:90673
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... OMIM:269700
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Complex Regional Pain Syndrome
Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia ORPHA:83452
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity ORPHA:3077
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight OMIM:614450
X-Linked Acrogigantism
Increased body mass index, Polyphagia, Tall stature ORPHA:300373
Hypohidrosis With Abnormal Palmar Dermal Ridges
Fever OMIM:241120
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity ORPHA:589905
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Feeding difficulties, Choreoathetosis, Gastroesophageal reflux, Vomiting ORPHA:17
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Increased body weight ORPHA:276608
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha... OMIM:615873
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Gangliocytoma
Polyphagia ORPHA:251937
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Somatic sensory dysfunction, Hypothermia, Impaired temperature sensation, Dys... ORPHA:642
Fabry Disease
Fever, Nausea and vomiting, Anorexia, Abdominal pain, Malabsorption, Achalasia ORPHA:324
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Hypothermia, Malabsorption, Feeding difficultie... ORPHA:565
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydip... ORPHA:293987
Trigeminal Neuralgia
Somatic sensory dysfunction, Paresthesia, Allodynia, Feeding difficulties ORPHA:221091
Isolated Thyroid-Stimulating Hormone Deficiency
Feeding difficulties in infancy, Constipation, Hypothermia ORPHA:90674
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Obesity ORPHA:79444
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe... OMIM:182290
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Ataxia, Hypothermia, Feeding difficulties ORPHA:79282
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Craniopharyngioma
Polyphagia, Obesity ORPHA:54595
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Occipital Horn Syndrome
Gastroparesis, Hypothermia, Hiatus hernia, Gastroesophageal reflux, Esophagitis, Dysphagia, Poor ... ORPHA:198
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder OMIM:274300
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Marburg Hemorrhagic Fever
Fever, Abnormality of the gastrointestinal tract, Hypothermia, Anorexia, Dysesthesia, Abdominal p... ORPHA:99826
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Obesity ORPHA:79443
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Constipation, Hypothermia OMIM:218700
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Pfapa Syndrome
Abnormality of temperature regulation ORPHA:42642
Joubert Syndrome 35
Abnormality of temperature regulation, Ataxia OMIM:618161
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Obesity, Self-injurious behavior, Dysphagia, Failure to thri... ORPHA:1606
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Feeding difficulties in infancy, Constipation, Hypothermia ORPHA:226307
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Obesity, Camptodactyly, Dysphagia, Polyphagia, Self... OMIM:607872
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Hypothermia, Feeding difficulties, Gastroesophageal reflux, Constip... ORPHA:438213
Machado-Joseph Disease Type 1
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276238
Machado-Joseph Disease Type 2
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276241
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight OMIM:615830
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Agitation, Increased body weight, Large for gestational age ORPHA:263455
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormality of temperature regulation, Dy... ORPHA:276244
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Sandhoff Disease
Exaggerated startle response OMIM:268800
Sarcoidosis
Fever, Abnormality of the gastrointestinal tract, Hypothermia, Decreased liver function, Hepatic ... ORPHA:797
Beta-Thalassemia
Abnormality of temperature regulation ORPHA:848
Tay-Sachs Disease
Tremor, Exaggerated startle response, Laryngeal dystonia, Dystonia ORPHA:845
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Abnormality of temperature regulation OMIM:619173
Sotos Syndrome
Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... OMIM:117550
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Neurotrophic Keratopathy
Allodynia, Hyperesthesia ORPHA:137596
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Cockayne Syndrome Type 1
Difficulty walking, Abnormality of temperature regulation, Ataxia, Gait disturbance ORPHA:90321
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Dorsocervical fat pad, Increased body weight ORPHA:189427
Stuve-Wiedemann Syndrome 1
Fever, Abnormality of temperature regulation, Recurrent fever, Dysphagia OMIM:601559
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Chronic Mucocutaneous Candidiasis
Abnormality of temperature regulation ORPHA:1334
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Deeah Syndrome
Abnormality of temperature regulation, Self-mutilation, Dysphagia OMIM:619004
Alström Syndrome
Truncal obesity, Polyphagia, Obesity, Dorsocervical fat pad ORPHA:64
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
Acute Transverse Myelitis
Fever, Abnormality of temperature regulation, Gait disturbance ORPHA:139417
Ulnar-Mammary Syndrome
Abnormality of temperature regulation ORPHA:3138
Benign Schwannoma
Intestinal polyposis, Allodynia, Abnormal esophagus morphology ORPHA:252164
Cushing Disease
Truncal obesity, Abdominal obesity, Dorsocervical fat pad, Increased body weight ORPHA:96253
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Syndrome Due To Ectopic Acth Secretion
Dorsocervical fat pad, Anorexia, Increased body weight, Weight loss, Truncal obesity, Abdominal o... ORPHA:99889
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation ORPHA:667
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of temperature regulation, Heat intolerance ORPHA:2273
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 Ntsr1

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 Ntsr1.

No publications found that use IMPC mice or data for Ntsr1.

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
Ntsr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ntsr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ntsr1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ntsr1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ntsr1tm361028(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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