Gene Summary

Name:
fatty acid amide hydrolase
Synonyms:
N/A

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
increased mean platelet volume Faahem1(IMPC)H HOM Early adult 2.08×10-09
increased circulating iron level Faahem1(IMPC)H HOM Early adult 5.62×10-06
decreased circulating glucose level Faahem1(IMPC)H HOM Early adult 1.99×10-05
increased fasting circulating glucose level Faahem1(IMPC)H HOM   Early adult 4.50×10-05

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Viewing: all phenotypes
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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 Faah 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 Faah by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Riboflavin Deficiency
Lethargy, Hypothermia OMIM:615026
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia OMIM:610006
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hereditary Central Diabetes Insipidus
Fever, Polydipsia ORPHA:30925
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Hypothermia ORPHA:29822
Developmental And Epileptic Encephalopathy 78
Chorea, Hypothermia OMIM:618557
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Primary Erythromelalgia
Hypothermia ORPHA:90026
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Intermittent hypothermia, Oculogyric crisis, Tongue th... OMIM:608643
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Dystonia OMIM:614654
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Idiopathic Congenital Hypothyroidism
Lethargy, Hypothermia ORPHA:95717
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Leptin Receptor Deficiency
Abnormal eating behavior, Aggressive behavior, Abnormal hypothalamus morphology, Emotional labili... OMIM:614963
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Central Diabetes Insipidus
Fever, Polydipsia, Anorexia ORPHA:178029
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Kleine-Levin Syndrome
Fever, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, A... ORPHA:33543
Familial Cold Urticaria
Dysesthesia, Polydipsia, Fever ORPHA:47045
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Nephronophthisis-Like Nephropathy 2
Polydipsia, Recurrent fever OMIM:619468
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Meningococcal Meningitis
Fever, Paresthesia, Hypothermia, Anorexia ORPHA:33475
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Hypothermia OMIM:608800
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Hypothermia, Impaired... ORPHA:99027
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,... ORPHA:79230
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Familial Thyroid Dyshormonogenesis
Lethargy, Hypothermia ORPHA:95716
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... OMIM:222470
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait OMIM:618493
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Hemochromatosis, Type 2B
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... OMIM:613313
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... OMIM:615160
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:240200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Glycogen Storage Disease Ixb
Splenomegaly, Hypoglycemia, Hyperuricemia OMIM:261750
Menkes Disease
Hypothermia OMIM:309400
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Syndromic Diarrhea
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... ORPHA:84064
Timothy Syndrome
Hypothermia OMIM:601005
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia OMIM:618838
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... OMIM:617872
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Genetic Transient Congenital Hypothyroidism
Lethargy, Hypothermia ORPHA:226316
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Ataxia, Hypothermia, Chorea, Dysphagia, Gait ataxia, Dystonia ORPHA:255210
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Ataxia, Hypothermia, Anorexia ORPHA:20
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Alexander Disease
Ataxia, Hypothermia, Tremor, Chorea, Self-injurious behavior, Dysphagia ORPHA:58
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypothermia ORPHA:159
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Unexplained fevers OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Unexplained fevers OMIM:304800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Neuroleptic Malignant Syndrome
Fever, Oculogyric crisis, Hypothermia, Tremor, Chorea, Agitation, Dysphagia ORPHA:94093
Ethylene Glycol Poisoning
Addictive alcohol use, Hypothermia, Ataxia ORPHA:31826
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Allodynia ORPHA:51890
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Pain insensitivity, Somatic sensory dysfunction, Unexplained fevers, ... ORPHA:642
Congenital Enterovirus Infection
Fever, Hypothermia ORPHA:292
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia ORPHA:26793
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures ORPHA:199296
Teratoma, Pineal
Polydipsia OMIM:273120
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Hypothermia ORPHA:90673
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
East Syndrome
Polydipsia, Salt craving, Ataxia, Action tremor ORPHA:199343
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Nephrogenic Diabetes Insipidus
Fever, Polydipsia, Anorexia ORPHA:223
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Choreoathetosis, Dystonia, Hypothermia, Aggressive behavior ORPHA:17
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hypothermia, Aggressive behavior, Impaired pain sensation, Self-injurious behavior, Compul... ORPHA:293987
Cystinosis
Fever, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Ochoa Syndrome
Polydipsia ORPHA:2704
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Attention deficit hyperactivity disorder ORPHA:90674
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Hypothermia ORPHA:488632
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Complex Regional Pain Syndrome
Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia ORPHA:83452
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... ORPHA:2298
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Lethargy, Ataxia, Hypothermia ORPHA:79282
Whipple Disease
Fever, Polydipsia, Ataxia, Anorexia ORPHA:3452
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria OMIM:616026
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto... ORPHA:391673
Pediatric-Onset Graves Disease
Tremor, Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia, Intention tremor OMIM:612780
Nephronophthisis 4
Polydipsia OMIM:606966
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Helix Syndrome
Polydipsia, Heat intolerance OMIM:617671
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Gitelman Syndrome
Salt craving, Ataxia, Paresthesia, Polydipsia, Recurrent fever OMIM:263800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia ORPHA:369929
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Splenomegaly, Increased circulating ferritin concentration, Elevated transferr... ORPHA:465508
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Hypothermia OMIM:218700
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231214
Marburg Hemorrhagic Fever
Fever, Hypothermia, Anorexia, Dysesthesia, Aggressive behavior ORPHA:99826
Menkes Disease
Chorea, Hypothermia ORPHA:565
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Hypothermia ORPHA:226307
Nephronophthisis 3
Polydipsia OMIM:604387
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Hypothermia, Dysphagia, Dystonia, Stereotypical hand wringing ORPHA:438213
Nephronophthisis 1
Polydipsia OMIM:256100
Occipital Horn Syndrome
Hypothermia, Dysphagia ORPHA:198
Brain-Lung-Thyroid Syndrome
Hyperactivity, Ataxia, Unexplained fevers, Abnormal eating behavior, Chorea, Abnormal drinking be... ORPHA:209905
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Trigeminal Neuralgia
Allodynia ORPHA:221091
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia OMIM:613986
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Nephronophthisis 11
Polydipsia OMIM:613550
Erdheim-Chester Disease
Fever, Polydipsia, Ataxia ORPHA:35687
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Renal Hypoplasia
Polydipsia ORPHA:93101
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Panhypophysitis
Polydipsia ORPHA:95513
Wolfram Syndrome
Polydipsia, Ataxia ORPHA:3463
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Sarcoidosis
Fever, Hypothermia ORPHA:797
Oligomeganephronia
Polydipsia ORPHA:2260
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia ORPHA:537
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Splenomegaly, Hyperglycinemia, Increased total iro... ORPHA:309854
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Arima Syndrome
Polydipsia, Ataxia OMIM:243910
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Self-mutilation ORPHA:314621
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Bartter Syndrome, Type 2, Antenatal
Fever, Polydipsia, Paresthesia OMIM:241200
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Hypoesthesia, Allodynia, Distal sensory impairment, Dysphagia OMIM:603041
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Parathyroid Carcinoma
Polydipsia, Dysphagia ORPHA:143
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Gitelman Syndrome
Polydipsia, Salt craving, Paresthesia ORPHA:358
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia OMIM:602522
Cystinosis, Nephropathic
Polydipsia, Dysphagia, Oral-pharyngeal dysphagia OMIM:219800
Benign Schwannoma
Allodynia ORPHA:252164
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277

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 Faah

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 Faah.

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

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
Faahtm367406(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Faahem1(IMPC)H Exon Deletion Mice

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