Gene Summary

Name:
phenylalanyl-tRNA synthetase, alpha subunit
Synonyms:
Farsla,  0610012A19Rik

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
decreased bone mineral density Farsatm2a(EUCOMM)Wtsi HET Early adult 2.77×10-07
decreased bone mineral content Farsatm2a(EUCOMM)Wtsi HET Early adult 3.52×10-06
preweaning lethality, complete penetrance Farsatm2a(EUCOMM)Wtsi HOM   Early adult 0.00
decreased leukocyte cell number Farsatm2a(EUCOMM)Wtsi HET Early adult 9.08×10-05
increased circulating insulin level Farsatm2a(EUCOMM)Wtsi HET Early adult 5.06×10-07
impaired glucose tolerance Farsatm2a(EUCOMM)Wtsi HET Early adult 2.97×10-06
decreased circulating chloride level Farsatm2a(EUCOMM)Wtsi HET Early adult 1.66×10-07
decreased circulating sodium level Farsatm2a(EUCOMM)Wtsi HET Early adult 2.30×10-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 105 images

Human diseases caused by Farsa 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 Farsa by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Joint hypermobility, Hyp... OMIM:619013

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi... OMIM:214700
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy... OMIM:606762
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Gout, Hy... OMIM:610947
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia, Hyperkalemia OMIM:240200
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac... OMIM:619489
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... ORPHA:35878
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... OMIM:610600
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Joint hypermobility, Delayed puberty, Hyperinsulinemic hypoglycemia, Osteoporo... OMIM:616033
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Hyponatremia, Decreased circulating cortisol... ORPHA:199296
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:177735
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556037
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, ... OMIM:264350
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia ORPHA:83601
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hypoglycemia, Adr... ORPHA:199299
Estrogen Resistance
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulati... OMIM:615363
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal ... ORPHA:556030
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Decreased response to growth h... ORPHA:91354
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... OMIM:203400
Mirage Syndrome
Hypoglycemia, Radial club hand, Lymphopenia, Adrenal insufficiency, Leukopenia, Hyponatremia, Adr... OMIM:617053
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Reduced blood ... OMIM:300539
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesem... OMIM:601678
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... ORPHA:280356
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus ORPHA:178029
Generalized Pseudohypoaldosteronism Type 1
Abnormal circulating aldosterone, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:171876
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus ORPHA:79084
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Hyperbilir... ORPHA:1667
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:602522
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Addison Disease
Adrenal calcification, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insufficiency, Primary... ORPHA:85138
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Abnormal circulating porphyrin concentration, Hyponatremia, Abnormal e... ORPHA:100924
Bartter Syndrome Type 4
Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst... ORPHA:89938
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Neutropenia, Thrombocyto... ORPHA:391673
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronis... OMIM:241200
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia ORPHA:1930
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Adrenocorticotropin deficient adrenal insufficiency, Recurrent hypoglyc... ORPHA:293978
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur... ORPHA:682
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Elevated circu... ORPHA:247353
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Hyperkalemia, Abnormal circulating cholesterol co... ORPHA:289548
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Hyperkalemia, Abnormal circulating cholesterol co... ORPHA:168558
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hype... ORPHA:90790
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Pancreatic isle... ORPHA:263455
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Thrombocytopenia ORPHA:449285
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Osteoarthritis, Anemia, Elevat... OMIM:606069
Alg8-Cdg
Hyponatremia, Anemia, Camptodactyly, Thrombocytopenia ORPHA:79325
Acute Adrenal Insufficiency
Normocytic anemia, Hypoglycemia, Androgen insufficiency, Increased circulating ACTH level, Primar... ORPHA:95409
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Whipple Disease
Insulin resistance, Splenomegaly, Hyponatremia, Hypothyroidism, Arthritis, Anemia ORPHA:3452
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Hypercholesterole... ORPHA:528
Shigellosis
Microangiopathic hemolytic anemia, Hypoglycemia, Leukocytosis, Abscess, Hyponatremia, Splenic abs... ORPHA:810
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints... ORPHA:2457
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Renal Hypoplasia, Bilateral
Hyponatremia, Anemia, Hyperkalemia, Glycosuria ORPHA:97362
Cholera
Hypoglycemia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Familial Hypoaldosteronism
Adrenal insufficiency, Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Incre... ORPHA:427
Alg12-Cdg
Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Decreased serum insul... ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Insulin-resistant diabetes mellitus, Elbow flexion contracture, Hyperglycemia, Hyperi... OMIM:248370
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hypocalcemia, Splenomegaly, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... OMIM:618183
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Hypertriglyceridemia ORPHA:363400
Legionnaires Disease
Hyponatremia, Lymphopenia, Splenomegaly ORPHA:549
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con... OMIM:620366
Porphyria Variegata
Hyponatremia, Inappropriate antidiuretic hormone secretion, Anemia, Abnormal circulating porphyri... ORPHA:79473
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Rickets, Glycosuria, Hypomagnes... OMIM:219800
Juvenile Nephropathic Cystinosis
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... ORPHA:411634
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Hyperinsulinemia, Splenomegaly, Elevated circulating creatine kin... OMIM:613327
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Hemolytic anemia, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Sept... ORPHA:544482
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Familial Dysautonomia
Hyponatremia, Recurrent fractures, Osteolysis ORPHA:1764
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... ORPHA:71212
Rabin-Pappas Syndrome
Hyponatremia, Tracheomalacia OMIM:620155
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hepatosplenomegaly, Primary adrenal insufficiency, Hypersplenism, Bone-mar... ORPHA:275761
Infant Botulism
Hyponatremia ORPHA:178478
Japanese Encephalitis
Elbow flexion contracture, Stiff neck, Hyponatremia, Neutrophilia, Inappropriate antidiuretic hor... ORPHA:79139
Mpi-Cdg
Hypoalbuminemia, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Ost... ORPHA:534
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Diabetes insipidus, Hypernatremia OMIM:304800
Holoprosencephaly
Hypoglycemia, Panhypopituitarism, Abnormality of the spleen, Joint hypermobility, Hyponatremia, D... ORPHA:2162
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia OMIM:125800
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... ORPHA:3008
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas... OMIM:201750
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to... ORPHA:3464
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypocalcemia, Hyper... OMIM:619991
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hypernatremia OMIM:620423
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Reduced circulating growth hormone concentration OMIM:615508
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, An... OMIM:615926
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration OMIM:610505
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Prader-Willi Syndrome
Precocious puberty, Osteopenia, Decreased HDL cholesterol concentration, Decreased response to gr... OMIM:176270
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Splenomegaly, Cystic angiomatosis of bone, Hypertriglyc... OMIM:608594
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Cystic angioma... OMIM:269700
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Osteomalacia, Osteomyelitis, Decreased propor... OMIM:619381
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia ORPHA:223
Atypical Werner Syndrome
Limitation of joint mobility, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsul... ORPHA:79474
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypokalemia, Hyponatremia OMIM:618426
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid concentration, Hyponat... ORPHA:731
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Hyperaldosteronism, Hyper... ORPHA:508
Atelis Syndrome 2
Anemia, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration, Thrombo... OMIM:620185
Hartsfield Syndrome
Gonadotropin deficiency, Craniosynostosis, Diabetes insipidus, Hypernatremia OMIM:615465
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... ORPHA:99413
Turner Syndrome
Osteopenia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... ORPHA:881
Mosaic Monosomy X
Osteopenia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... ORPHA:99228
Monosomy X
Osteopenia, Hyperinsulinemia, Glucose intolerance, Type II diabetes mellitus, Hashimoto thyroidit... ORPHA:99226
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Abnormality of neutrophil physiology, Polycythemia, Osteomyelitis, Leuk... ORPHA:2968
Pmm2-Cdg
Hypoalbuminemia, Insulin resistance, Osteopenia, Elevated circulating thyroid-stimulating hormone... ORPHA:79318
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Joint hypermobility, Hyp... OMIM:619013

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 Farsa

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 Farsa.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Farsatm2a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Farsatm2a(EUCOMM)Wtsi PMC6459510

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
Farsatm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Farsatm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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