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Gene: Farsa MGI:1913840

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Gene Summary

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

Order Alleles

IMPC Data Collections

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
increased circulating insulin level Farsatm2a(EUCOMM)Wtsi HET Early adult 5.06×10-07
decreased leukocyte cell number Farsatm2a(EUCOMM)Wtsi HET Early adult 9.08×10-05
impaired glucose tolerance Farsatm2a(EUCOMM)Wtsi HET Early adult 2.97×10-06
preweaning lethality, complete penetrance Farsatm2a(EUCOMM)Wtsi HOM   Early adult 0.00
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
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

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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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Legacy Phenotype Associated Images
Farsatm2a(EUCOMM)Wtsi
HET, Male, WTSI
Farsatm2a(EUCOMM)Wtsi
HET, Male, WTSI
Farsatm2a(EUCOMM)Wtsi
HET, Male, WTSI
Farsatm2a(EUCOMM)Wtsi
HET, Male, WTSI
Farsatm2a(EUCOMM)Wtsi
HET, Male, WTSI

View all 105 images

Farsatm2a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HET, Female, WTSI
Farsatm2a(EUCOMM)Wtsi
back skin, HET, Female, WTSI

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
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hy... 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
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... OMIM:614736
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... OMIM:214700
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, ... OMIM:606762
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... OMIM:610947
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... ORPHA:199296
Short Stature, Dauber-Argente Type
Osteopenia, Increased insulin like growth factor binding protein acid labile subunit concentratio... OMIM:619489
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... OMIM:610600
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, ... OMIM:616033
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:613090
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hypoglycemia, Type I diab... ORPHA:276580
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Hypoketotic... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hypopar... ORPHA:199299
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... OMIM:264350
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin ... OMIM:203400
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos... OMIM:300539
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Radial club hand,... OMIM:617053
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level OMIM:614492
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious pub... ORPHA:90794
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi... OMIM:601678
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Hyperinsulinemia, Abnormal ... ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Central Diabetes Insipidus
Hyponatremia, Diabetes insipidus ORPHA:178029
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto... ORPHA:391673
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos... ORPHA:785
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Central hypothyroidis... ORPHA:1667
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia,... ORPHA:171876
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism OMIM:602522
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating free fatty acid level, Recurr... ORPHA:276556
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasti... ORPHA:2298
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ... ORPHA:100924
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... ORPHA:682
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyper... OMIM:241200
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95512
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins... ORPHA:293978
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:95513
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... ORPHA:89938
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Arthritis, Hyp... ORPHA:247353
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... ORPHA:289548
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... ORPHA:168558
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem... ORPHA:90790
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Posttransplant Acute Limbic Encephalitis
Hyponatremia ORPHA:163921
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Pancreatic islet-cell hyperplasi... ORPHA:263455
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Snakebite Envenomation
Hyponatremia, Hypopituitarism, Thrombocytopenia ORPHA:449285
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... ORPHA:31824
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... ORPHA:95409
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia ORPHA:79273
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia, Camptodactyly ORPHA:79325
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased lev... ORPHA:79237
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Whipple Disease
Hyponatremia, Splenomegaly, Insulin resistance, Arthritis, Hypothyroidism, Anemia ORPHA:3452
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Insulin resistance, Bone ... ORPHA:528
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... ORPHA:91355
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Shigellosis
Hyponatremia, Hypoglycemia, Abscess, Leukocytosis, Abnormal blood ion concentration, Arthritis, M... ORPHA:810
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra... OMIM:201810
Renal Hypoplasia, Bilateral
Hyponatremia, Hyperkalemia, Anemia, Glycosuria ORPHA:97362
Cholera
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia ORPHA:173
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Osteopenia, Impaired glucose tolerance, Joint stiffness, Hyperlipidemia, Flexion cont... OMIM:248370
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Adrenal insufficiency, Decreased c... ORPHA:427
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia OMIM:620157
Alg12-Cdg
Hyponatremia, Decreased serum insulin-like growth factor 1, Thrombocytopenia, Recurrent hypoglyce... ORPHA:79324
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Gluco... OMIM:608612
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Osteopenia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:618183
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Elevated circulating cre... OMIM:620366
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Legionnaires Disease
Hyponatremia, Splenomegaly, Lymphopenia ORPHA:549
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration, Inappropriate antidiuretic hormone se... ORPHA:79473
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... ORPHA:293964
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... ORPHA:411634
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Splenomegaly, Rickets, Reduced blood urea nitrogen, Hypophosphat... OMIM:219800
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... ORPHA:79086
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... ORPHA:544482
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegal... OMIM:613327
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Familial Dysautonomia
Hyponatremia, Osteolysis, Recurrent fractures ORPHA:1764
Rabin-Pappas Syndrome
Hyponatremia, Tracheomalacia OMIM:620155
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa... ORPHA:71212
Infant Botulism
Hyponatremia ORPHA:178478
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Hypersplenism,... ORPHA:275761
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Japanese Encephalitis
Hyponatremia, Neutrophilia, Stiff neck, Elbow flexion contracture, Inappropriate antidiuretic hor... ORPHA:79139
Mpi-Cdg
Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Osteomalacia, Recurrent fractures, Joint stiffn... ORPHA:534
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Diabetes insipidus OMIM:304800
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Hypoglycemia, Abnormality of the spleen, Panhypopituitarism, Joi... ORPHA:2162
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Nephrogenic diabetes insipidus, Hypernatremia OMIM:125800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... ORPHA:3008
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ... ORPHA:3464
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Increased circu... OMIM:619991
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration OMIM:615508
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:610505
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Lipodystrophy, Congenital Generalized, Type 1
Cystic angiomatosis of bone, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Spl... OMIM:608594
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hyperinsulinemic hypoglycemia OMIM:602579
Lipodystrophy, Congenital Generalized, Type 2
Cystic angiomatosis of bone, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum lepti... OMIM:269700
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus, Hypernatremia ORPHA:223
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Diabetes mellitus, ... ORPHA:79474
Prader-Willi Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:176270
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsu... ORPHA:2126
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia OMIM:618252
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... ORPHA:731
Atelis Syndrome 2
Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi... OMIM:620185
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hypokalemia, Hyperaldosteronism, In... ORPHA:508
Hartsfield Syndrome
Hypernatremia, Gonadotropin deficiency, Diabetes insipidus, Craniosynostosis OMIM:615465
Tenorio Syndrome
Osteopenia, Hypoglycemia, Hypoinsulinemia, Joint laxity OMIM:616260
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos... ORPHA:99413
Turner Syndrome
Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos... ORPHA:881
Mosaic Monosomy X
Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos... ORPHA:99228
Monosomy X
Osteopenia, High urinary gonadotropin level, Increased circulating gonadotropin level, Osteoporos... ORPHA:99226
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Hyperinsulinemic hypoglyce... ORPHA:2968
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Elevated ci... ORPHA:79318
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hy... 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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