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Gene: Gnasas1 MGI:1861674

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Gene Summary

Name:
GNAS antisense RNA 1
Synonyms:
Gnas-as,  Nespas

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal response to new environment Gnasas1tm2.1Jop HET Early adult 3.17×10-05
decreased hematocrit Gnasas1tm1Jop HET Early adult 1.68×10-05
decreased circulating free fatty acids level Gnasas1tm2.1Jop HET Early adult 2.44×10-05
abnormal startle reflex Gnasas1tm1Jop HET   Early adult 1.23×10-06
abnormal startle reflex Gnasas1tm2.1Jop HET   Early adult 3.54×10-05
decreased grip strength Gnasas1tm1Jop HET Early adult 1.35×10-07
increased circulating glycerol level Gnasas1tm2.1Jop HET Early adult 2.22×10-05

Download data as:  TSV  XLS

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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.

Phenotype associated images not available

Human diseases caused by Gnasas1 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.

The table below shows human diseases associated to Gnasas1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudohypoparathyroidism, Type Ib
OMIM:603233

The table below shows human diseases predicted to be associated to Gnasas1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Anorexia ORPHA:79283
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Lethargy OMIM:605899
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation DECIPHER:8
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... ORPHA:100973
Early Myoclonic Encephalopathy
Lethargy, Dysphagia ORPHA:1935
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Hyperactivity, Short stature OMIM:300271
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia ORPHA:30925
Central Diabetes Insipidus
Lethargy, Polydipsia, Anorexia, Depression ORPHA:178029
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
N-Acetylglutamate Synthase Deficiency
Lethargy, Aggressive behavior OMIM:237310
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Severe Canavan Disease
Lethargy, Oral-pharyngeal dysphagia ORPHA:314911
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Developmental And Epileptic Encephalopathy 40
Lethargy OMIM:617065
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Febrile Infection-Related Epilepsy Syndrome
Lethargy ORPHA:163703
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
Cyclic Vomiting Syndrome
Lethargy, Attention deficit hyperactivity disorder, Anorexia OMIM:500007
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Lethargy, Dysphagia OMIM:613561
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Agitation ORPHA:276608
Short Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26792
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276556
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Dysphagia OMIM:233910
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Anorexia OMIM:619386
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Anorexia ORPHA:49827
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy OMIM:618232
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy ORPHA:71277
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276575
Glutaric Acidemia Type 3
Lethargy, Impulsivity ORPHA:35706
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Agitation, Polyphagia ORPHA:276580
Riboflavin Deficiency
Lethargy OMIM:615026
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Agitation, Polyphagia ORPHA:324575
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Dysphagia OMIM:618226
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy OMIM:246900
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy ORPHA:28
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy OMIM:610006
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy OMIM:618225
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Lethargy, Anorexia ORPHA:79312
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy OMIM:618228
Pontocerebellar Hypoplasia, Type 6
Lethargy OMIM:611523
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Anorexia OMIM:611590
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Lethargy, Agitation, Abnormal repetitive mannerisms ORPHA:927
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy OMIM:312170
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Susac Syndrome
Lethargy, Apathy ORPHA:838
Classic Galactosemia
Lethargy, Attention deficit hyperactivity disorder, Depression ORPHA:79239
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Lethargy OMIM:619064
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Holocarboxylase Synthetase Deficiency
Lethargy, Anorexia ORPHA:79242
Idiopathic Congenital Hypothyroidism
Lethargy ORPHA:95717
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Lethargy ORPHA:289916
Hypercalcemia, Infantile, 1
Lethargy OMIM:143880
Isovaleric Acidemia
Lethargy OMIM:243500
Insulinoma
Lethargy, Polyphagia ORPHA:97279
Citrullinemia Type Ii
Restlessness, Hyperactivity, Aggressive behavior, Abnormal eating behavior, Lethargy, Mania ORPHA:247585
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy OMIM:600649
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Evans Syndrome
Lethargy ORPHA:1959
Combined Oxidative Phosphorylation Deficiency 11
Neonatal death, Lethargy, Stillbirth OMIM:614922
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Meningococcal Meningitis
Lethargy, Anorexia ORPHA:33475
Citrullinemia Type I
Lethargy ORPHA:247525
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy ORPHA:27
Carnitine Deficiency, Systemic Primary
Lethargy OMIM:212140
Multiple Mitochondrial Dysfunctions Syndrome 1
Neonatal death, Lethargy OMIM:605711
Typhoid
Lethargy ORPHA:99745
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:42
Stiff-Person Syndrome
Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Isolated Atp Synthase Deficiency
Lethargy ORPHA:254913
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy OMIM:614299
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Agitation ORPHA:263455
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy OMIM:614857
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy OMIM:615838
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Staphylococcal Necrotizing Pneumonia
Lethargy, Addictive alcohol use ORPHA:36238
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy, Dysphagia OMIM:607483
Propionic Acidemia
Lethargy OMIM:606054
Familial Thyroid Dyshormonogenesis
Lethargy ORPHA:95716
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Lethargy OMIM:604377
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Maple Syrup Urine Disease
Lethargy OMIM:248600
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response OMIM:616881
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Lethargy, Polyphagia ORPHA:398069
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Skin-picking, Polyphagia, Abnormal temper tantrums ORPHA:398079
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy OMIM:210200
Dengue Fever
Lethargy ORPHA:99828
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Lethargy OMIM:251000
Ebola Hemorrhagic Fever
Lethargy, Dysphagia ORPHA:319218
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response, Short attention span OMIM:617864
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy OMIM:201475
Scrub Typhus
Lethargy ORPHA:83317
Fructose-1,6-Bisphosphatase Deficiency
Lethargy OMIM:229700
Pseudo-Torch Syndrome 2
Lethargy OMIM:617397
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Ogden Syndrome
Lethargy ORPHA:276432
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Aggressive behavior OMIM:618321
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Depression ORPHA:99832
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy ORPHA:465508
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy OMIM:212138
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Congenital Disorder Of Glycosylation, Type Ig
Lethargy OMIM:607143
3-Hydroxy-3-Methylglutaric Aciduria
Lethargy, Apathy, Anorexia ORPHA:20
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Depression, Bradykinesia, Dysphagia, Lethargy ORPHA:254892
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Depression, Dystonia, Memory impairme... ORPHA:845
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy OMIM:609015
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Necrotizing Enterocolitis
Lethargy ORPHA:391673
Cirrhosis, Familial
Lethargy OMIM:215600
Trichinellosis
Lethargy, Apathy, Dysphagia ORPHA:863
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lethargy OMIM:608836
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Attention deficit hyperactivity disorder, Depression ORPHA:90674
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Holocarboxylase Synthetase Deficiency
Lethargy OMIM:253270
Late-Onset Isolated Acth Deficiency
Lethargy, Anorexia ORPHA:199299
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy ORPHA:159
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy OMIM:201100
Renal Hypoplasia, Bilateral
Lethargy ORPHA:97362
Methylmalonic Aciduria, Cblb Type
Lethargy OMIM:251110
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy OMIM:277380
Mitochondrial Trifunctional Protein Deficiency
Lethargy ORPHA:746
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy OMIM:620306
Genetic Transient Congenital Hypothyroidism
Lethargy ORPHA:226316
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:26793
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Encephalitis Lethargica
Lethargy ORPHA:83600
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Familial Hypoaldosteronism
Lethargy ORPHA:427
Biotinidase Deficiency
Lethargy OMIM:253260
Methylmalonic Aciduria, Cbla Type
Lethargy OMIM:251100
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy ORPHA:395
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy, Dysphagia ORPHA:306674
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy OMIM:615751
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy ORPHA:90673
Peroxisome Biogenesis Disorder 5A (Zellweger)
Lethargy OMIM:614866
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Cholera
Lethargy ORPHA:173
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Lethargy OMIM:620233
Medulloblastoma
Lethargy ORPHA:616
Citrullinemia, Classic
Lethargy OMIM:215700
Posterior Urethral Valve
Lethargy ORPHA:93110
Pearson Marrow-Pancreas Syndrome
Lethargy, Anorexia OMIM:557000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Isolated Complex I Deficiency
Lethargy ORPHA:2609
Biotinidase Deficiency
Lethargy ORPHA:79241
Amoebiasis Due To Free-Living Amoebae
Lethargy, Restlessness ORPHA:68
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy OMIM:311250
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Glycine Encephalopathy
Lethargy ORPHA:407
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Semilobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:220386
Alobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93926
Lobar Holoprosencephaly
Depression, Apathy, Attention deficit hyperactivity disorder, Dysphagia, Lethargy ORPHA:93924
Complete Atrioventricular Septal Defect
Lethargy ORPHA:1329
Argininosuccinic Aciduria
Lethargy OMIM:207900
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment OMIM:617527
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy ORPHA:79282
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Hepatosplenomegaly ORPHA:79255
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Lethargy OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 1
Lethargy OMIM:252010
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy ORPHA:415
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Histiocytoid Cardiomyopathy
Lethargy ORPHA:137675
Lysinuric Protein Intolerance
Lethargy, Oral aversion ORPHA:470
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Hydranencephaly
Lethargy ORPHA:2177
Marburg Hemorrhagic Fever
Lethargy, Anorexia, Aggressive behavior ORPHA:99826
Multiple Endocrine Neoplasia Type 1
Lethargy, Anorexia, Depression ORPHA:652
Glycerol Kinase Deficiency
Lethargy OMIM:307030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy ORPHA:226307
Pineoblastoma
Lethargy ORPHA:251909
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy OMIM:218700
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Diamond-Blackfan Anemia
Lethargy ORPHA:124
Fructose Intolerance, Hereditary
Lethargy OMIM:229600
Exercise-Induced Malignant Hyperthermia
Lethargy ORPHA:466650
Paroxysmal Nocturnal Hemoglobinuria
Lethargy, Dysphagia ORPHA:447
Eisenmenger Syndrome
Lethargy ORPHA:97214
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Anemia, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522
Pseudohypoparathyroidism, Type Ib
OMIM:603233

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 Gnasas1

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 Gnasas1.

No publications found that use IMPC mice or data for Gnasas1.

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MGI Allele Allele Type Produced
Gnasas1tm1Jop Reporter-tagged deletion allele (with selection cassette) Mice

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