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 circulating iron level Faahem1(IMPC)H HOM Early adult 2.90×10-05
increased mean platelet volume Faahem1(IMPC)H HOM Early adult 2.58×10-09
decreased circulating glucose level Faahem1(IMPC)H HOM Early adult 1.83×10-05
increased fasting circulating glucose level Faahem1(IMPC)H HOM   Early adult 4.47×10-05

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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.

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
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... OMIM:205950
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Geniospasm 1
Anxiety OMIM:190100
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level... OMIM:618858
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Riboflavin Deficiency
Hypothermia, Lethargy OMIM:615026
Myh9-Related Disease
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... ORPHA:182050
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Lethargy OMIM:610006
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy... OMIM:606176
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... OMIM:210250
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Spontaneous Periodic Hypothermia
Hypothermia, Ataxia, Tremor ORPHA:29822
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Increased serum iron ORPHA:446
Hereditary Central Diabetes Insipidus
Fever, Polydipsia ORPHA:30925
Developmental And Epileptic Encephalopathy 78
Hypothermia, Chorea OMIM:618557
Primary Erythromelalgia
Hypothermia ORPHA:90026
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Idiopathic Congenital Hypothyroidism
Hypothermia, Lethargy ORPHA:95717
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hypoglycemia, Abnormality of iron homeostasis, Incr... OMIM:231100
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impaired glucose tolerance, Di... OMIM:606069
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Typ... OMIM:616860
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Familial Cold Urticaria
Fever, Polydipsia, Dysesthesia ORPHA:47045
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Nephronophthisis-Like Nephropathy 2
Recurrent fever, Polydipsia OMIM:619468
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Hyperammonemia ORPHA:664
Adult-Onset Autosomal Dominant Leukodystrophy
Hypothermia, Ataxia, Action tremor, Dysmetria, Intention tremor, Dysdiadochokinesis, Distal senso... ORPHA:99027
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Intermittent hypothe... OMIM:608643
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Familial Thyroid Dyshormonogenesis
Hypothermia, Lethargy ORPHA:95716
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia ORPHA:6
Meningococcal Meningitis
Hypothermia, Fever, Lethargy ORPHA:33475
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Permanent Congenital Hypothyroidism
Hypothermia ORPHA:226292
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ... OMIM:604290
Trichohepatoenteric Syndrome 1
Splenomegaly, Hypermethioninemia, Abnormality of iron homeostasis, Increased mean platelet volume... OMIM:222470
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes mellitus, Insulin resistance, Hypercholesterolemia ORPHA:181393
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Abnormality of temperature regulation, Fever, Inability to walk, Unsteady gait OMIM:618493
Central Diabetes Insipidus
Fever, Polydipsia ORPHA:178029
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia OMIM:245400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:614736
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Increased serum iron, Anemia, Elevate... OMIM:613313
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia OMIM:616737
Propionic Acidemia
Hypoglycemia, Hyperammonemia ORPHA:35
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic acid concentration, Hypogl... OMIM:615160
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Lathosterolosis
Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Incr... OMIM:607330
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia ORPHA:226313
Leptin Receptor Deficiency
Aggressive behavior, Abnormal hypothalamus morphology OMIM:614963
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... OMIM:604250
Syndromic Diarrhea
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeostasis, Increased m... ORPHA:84064
Menkes Disease
Hypothermia OMIM:309400
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Pancytopenia OMIM:617872
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Fever, Ataxia, Chorea, Gait ataxia, Dysphagia, Dystonia ORPHA:255210
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... OMIM:604367
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration OMIM:618838
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... ORPHA:98870
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... ORPHA:848
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Genetic Transient Congenital Hypothyroidism
Hypothermia, Lethargy ORPHA:226316
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Lethargy ORPHA:159
Diabetes Insipidus, Neurohypophyseal, X-Linked
Polydipsia OMIM:304900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Glycosuria, Ketotic hypoglycemia ORPHA:2089
Congenital Hypothyroidism
Paresthesia, Hypothermia ORPHA:442
Congenital Enterovirus Infection
Hypothermia, Fever ORPHA:292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Alexander Disease
Hypothermia, Ataxia, Chorea, Tremor, Dysphagia ORPHA:58
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Lethargy ORPHA:90673
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Unexplained fevers OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Unexplained fevers OMIM:304800
Neuroleptic Malignant Syndrome
Hypothermia, Fever, Oculogyric crisis, Chorea, Tremor, Dysphagia ORPHA:94093
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Lethargy ORPHA:26793
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Fever, Lethargy, Ataxia ORPHA:20
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia OMIM:618857
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Teratoma, Pineal
Polydipsia OMIM:273120
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent fever, Hypothermia, Pain insensitivity, Trophic limb changes, Distal sensory impairment... ORPHA:642
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hyponatremia ORPHA:199296
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, ... OMIM:616278
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia OMIM:603585
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Splenomegaly OMIM:613027
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
East Syndrome
Salt craving, Polydipsia, Action tremor, Ataxia ORPHA:199343
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn... ORPHA:2298
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Lethargy ORPHA:90674
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Inability to walk ORPHA:488632
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Fever, Polydipsia, Polyphagia, Impaired pain sensation ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Ethylene Glycol Poisoning
Hypothermia, Ataxia ORPHA:31826
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Ataxia, Lethargy ORPHA:79282
Ochoa Syndrome
Polydipsia ORPHA:2704
Complex Regional Pain Syndrome
Dysesthesia, Trophic changes related to pain, Allodynia, Somatic sensory dysfunction ORPHA:83452
Cystinosis
Fever, Polydipsia ORPHA:213
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia OMIM:616026
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Thrombocytopenia, Hypergly... ORPHA:391673
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Nephrogenic Diabetes Insipidus
Fever, Polydipsia ORPHA:223
Infantile Liver Failure Syndrome 2
Hypoglycemia, Hyperammonemia OMIM:616483
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Choreoathetosis, Dystonia ORPHA:17
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polydipsia, Ataxia, Intention tremor, Salt craving, Dysdiadochokinesis OMIM:612780
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Splenomegaly, Increased serum ... OMIM:235200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... OMIM:616959
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Splenomegaly, Abnormality of iron homeostasis, Diab... ORPHA:465508
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoglycemia, Hyperammonemia OMIM:615751
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration OMIM:618835
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration OMIM:618839
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Lethargy OMIM:218700
Menkes Disease
Hypothermia, Chorea ORPHA:565
Aceruloplasminemia
Increased circulating ferritin concentration, Diabetes mellitus, Aceruloplasminemia, Hypochromic ... ORPHA:48818
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Helix Syndrome
Polydipsia, Heat intolerance OMIM:617671
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Athetosis ORPHA:369929
Nephronophthisis 4
Polydipsia OMIM:606966
Whipple Disease
Fever, Polydipsia, Ataxia ORPHA:3452
Gitelman Syndrome
Recurrent fever, Polydipsia, Ataxia, Salt craving, Paresthesia OMIM:263800
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Tremor ORPHA:525731
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Anemia, Hyperglycemia, Diabetes mellitus OMIM:609069
Nephronophthisis 3
Polydipsia OMIM:604387
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Lethargy ORPHA:226307
Occipital Horn Syndrome
Dysphagia, Hypothermia ORPHA:198
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... OMIM:613280
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dysphagia, Hypothermia, Dystonia, Exaggerated startle response ORPHA:438213
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypoglycemia, Hyperammonemia OMIM:617049
Marburg Hemorrhagic Fever
Hypothermia, Fever, Lethargy ORPHA:99826
Nephronophthisis 1
Polydipsia OMIM:256100
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Impaired tactile sensation, Allodynia, Hyperesthesia ORPHA:51890
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
African Iron Overload
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... ORPHA:139507
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Nephronophthisis 11
Polydipsia OMIM:613550
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Brain-Lung-Thyroid Syndrome
Ataxia, Intention tremor, Chorea, Abnormal eating behavior, Choreoathetosis, Unexplained fevers, ... ORPHA:209905
Trigeminal Neuralgia
Allodynia ORPHA:221091
Erdheim-Chester Disease
Fever, Polydipsia, Ataxia ORPHA:35687
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Renal Hypoplasia
Polydipsia ORPHA:93101
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level,... ORPHA:447
Sarcoidosis
Hypothermia, Fever ORPHA:797
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Mitchell-Riley Syndrome
Hyperbilirubinemia, Hyperglycemia OMIM:615710
Oligomeganephronia
Polydipsia ORPHA:2260
Wolfram Syndrome
Polydipsia, Ataxia ORPHA:3463
Panhypophysitis
Polydipsia ORPHA:95513
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Self-mutilation ORPHA:314621
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Splenomegaly, Polycythemia, Abnormal transferrin sa... ORPHA:309854
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... ORPHA:3337
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia ORPHA:537
Bartter Syndrome, Type 2, Antenatal
Fever, Polydipsia, Paresthesia OMIM:241200
Senior-Boichis Syndrome
Polydipsia ORPHA:84081
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia ORPHA:99880
Parathyroid Carcinoma
Dysphagia, Polydipsia ORPHA:143
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Gitelman Syndrome
Paresthesia, Salt craving, Polydipsia ORPHA:358
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Cystinosis, Nephropathic
Dysphagia, Polydipsia, Oral-pharyngeal dysphagia OMIM:219800
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731

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.

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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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