Gene Summary

Name:
fatty acid desaturase 3
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
abnormal auditory brainstem response Fads3tm1b(EUCOMM)Hmgu HOM   Early adult 1.70×10-12
decreased circulating phosphate level Fads3tm1b(EUCOMM)Hmgu HOM   Early adult 8.89×10-05
absent pinna reflex Fads3tm1b(EUCOMM)Hmgu HOM Early adult 1.80×10-08

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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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

3 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Human diseases caused by Fads3 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 Fads3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment OMIM:241520
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia OMIM:227810
Hyperphosphatasia With Mental Retardation Syndrome 3
Hearing impairment, Hyperphosphatemia OMIM:614207
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hearing impairment, Hypercalcemia OMIM:156400
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Mohr-Tranebjaerg Syndrome
Tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea m... ORPHA:52368
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Sensorineural hearing impairment, Azotemia OMIM:104200
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:289157
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Papilledema, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Raine Syndrome
Hypophosphatemia, Abnormality of the pinna, Posteriorly rotated ears, Protruding ear, Mixed heari... OMIM:259775
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Sensorineural hearing impairment, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Opsismodysplasia
Hypophosphatemia OMIM:258480
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Dent Disease 1
Hypophosphatemia OMIM:300009
Thyrotoxic Periodic Paralysis
Tremor, Mildly elevated creatine kinase, Transient hypophosphatemia, Episodic hypokalemia, Hypoma... ORPHA:79102
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hearing impairment, Hypercalcemia ORPHA:249
Familial Parathyroid Adenoma
Hypophosphatemia, Hypercalcemia ORPHA:99877
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system... ORPHA:99027
Mccune-Albright Syndrome
Hypophosphatemia, Hearing impairment ORPHA:562
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Hypernatremia, Hyponatremia, Hyperuricemia, Abnormal autonomic nervous syst... ORPHA:94093
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalcemia ORPHA:99878
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Tremor, Hearing impairment, Optic nerve compression ORPHA:667
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Hearing impairment, Hypokalemia, Hyperalaninemia, Hypomagnesemia ORPHA:699
Charcot-Marie-Tooth Disease Type 1F
Head tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve h... ORPHA:101085
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hyperuricosuria OMIM:229600
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:99880
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypercholesterolemia, Hypoammonemia, Low-set, posteriorly rotated ears, Hyponat... ORPHA:534
Parathyroid Carcinoma
Infantile hypercalcemia, Hypercalcemia, Hypophosphatemia ORPHA:143
Autosomal Recessive Hypophosphatemic Rickets
Hypophosphatemic rickets, Sensorineural hearing impairment, Renal hypophosphatemia ORPHA:289176
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hearing impairment, Hyperphosphatemia ORPHA:457059
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Optic atrophy, Hyperphosphatemia ORPHA:428
X-Linked Hypophosphatemia
Hypophosphatemia, Sensorineural hearing impairment ORPHA:89936
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Dent Disease
Elevated circulating creatine kinase concentration, Hyperuricosuria, Renal hypophosphatemia ORPHA:1652
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cockayne Syndrome Type 1
Tremor, Increased blood urea nitrogen, Macrotia, Hearing impairment, Absent brainstem auditory re... ORPHA:90321
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Opisthotonus, Hearing impairment, Decreased nerve... ORPHA:206436
Acrodysostosis 1 With Or Without Hormone Resistance
Hearing impairment, Optic atrophy, Hyperphosphatemia OMIM:101800
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Sensorineural hearing impairment, Hyperphosphatemi... ORPHA:79443
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Papilledema, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Resting tremor, Abnormal auditory evoked potentials, Optic neur... ORPHA:909
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Cockayne Syndrome A
Tremor, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impa... OMIM:216400
Cockayne Syndrome B
Tremor, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impa... OMIM:133540
Mend Syndrome
Elevated 8(9)-cholestenol, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol ORPHA:401973
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hypocalcemia, Hyperkalemia, Hyperphosphatemia ORPHA:466650
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651

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 Fads3

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 Fads3.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Fads3tm1b(EUCOMM)Hmgu PMC7263671
FADS3 is a Δ14Z sphingoid base desaturase that contributes to gender differences in the human plasma sphingolipidome. The Journal of biological chemistry (December 2019) Fads3tm1a(KOMP)Wtsi PMC7029104
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Fads3tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Fads3tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Fads3tm1b(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Fads3tm1b(EUCOMM)Wtsi