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Gene: Fads3 MGI:1928740

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Gene Summary

Name:
fatty acid desaturase 3
Synonyms:
N/A

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

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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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DSS Histology

Images

8 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

3 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

5 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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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
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Sensorineural hearing impairment, Hypophosphatemic rickets OMIM:241520
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Se... OMIM:616648
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... ORPHA:94090
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, EEG abnormality, Facial palsy, Sensorineural hearing impairm... OMIM:617519
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154275
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Focal dystonia, Tremor, Abnormal cochl... ORPHA:52368
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:154276
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemia, Hypophosphatem... ORPHA:157215
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:145600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, H... OMIM:619743
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Colchicine Poisoning
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hyponatremia, Hypo... ORPHA:31824
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Hearing impairment OMIM:277440
Abcd Syndrome
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Aganglionic megacolon, Heari... OMIM:600501
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen ORPHA:94059
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Hearing impairment OMIM:156400
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany ORPHA:36913
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Head titubation, Increased circulating... ORPHA:3240
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Alport Syndrome 3, Autosomal Dominant
Azotemia, Sensorineural hearing impairment, Hypophosphatemia, Hearing impairment OMIM:104200
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia OMIM:239200
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Neonatal hyperbilirubinemia, Sensorineural hearing impairmen... ORPHA:529808
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:601455
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Neonatal hyperbilirubinemia, Sensorineural hearing impairmen... ORPHA:529799
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Thyrotoxic Periodic Paralysis
Transient hypophosphatemia, Hyperkalemia, Tremor, Episodic hypokalemia, Abnormality of peripheral... ORPHA:79102
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Prolonged brainstem auditory evoked potentials OMIM:616881
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... ORPHA:411634
Opsismodysplasia
Posteriorly rotated ears, Low-set ears, Hypophosphatemia OMIM:258480
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia ORPHA:469
Raine Syndrome
Low-set ears, Hypophosphatemia, Protruding ear, Mixed hearing impairment, Abnormal pinna morpholo... OMIM:259775
Dent Disease 1
Hypophosphatemia OMIM:300009
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Posteriorly rotated ears, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Neuroleptic Malignant Syndrome
Hyperuricemia, Oculogyric crisis, Abnormal autonomic nervous system physiology, Hyperphosphatemia... ORPHA:94093
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Hearing impairment ORPHA:249
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Mccune-Albright Syndrome
Hypophosphatemia, Hearing impairment ORPHA:562
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Head titubation, Autonomic bladder dysfunction, Abnormal autonomic ne... ORPHA:99027
Primary Fanconi Renotubular Syndrome
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Decreased ... ORPHA:3337
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hearing impairment, Tremor, Optic nerve compression, Hypocalcemia ORPHA:667
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... ORPHA:94089
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Paget Disease Of Bone 5, Juvenile-Onset
Hyperuricemia, Hydroxyprolinemia, Hyperphosphatemia, Hearing impairment, Sensorineural hearing im... OMIM:239000
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Writer's cramp, Hypocalcemia, Optic atrophy, Hypomagnesemia ORPHA:428
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia ORPHA:405
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Pearson Syndrome
Hypophosphatemia, Hyperalaninemia, Hypokalemia, Hearing impairment, Hypocalcemia, Hypomagnesemia ORPHA:699
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hyperphosphatemia, External ear malformation, Hypocalcemia ORPHA:2323
Cystinosis, Nephropathic
Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, Decreased p... OMIM:219800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Calcinosis OMIM:211900
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hypophosphatemia, Protruding ear, EEG abnormality, Hypokalemia... ORPHA:534
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Absent brainstem auditory responses, Decreased nerve conduction velocity, Optic nerv... ORPHA:101085
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypocalcemic tetany, Sensorineural hearing impairment, Hypophosphatemic r... ORPHA:289176
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Hearing impairment ORPHA:457059
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia OMIM:229600
X-Linked Hypophosphatemia
Hypophosphatemia, Sensorineural hearing impairment ORPHA:89936
Infantile Krabbe Disease
Decreased nerve conduction velocity, Hearing impairment, Opisthotonus, Prolonged brainstem audito... ORPHA:206436
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Increased blood urea nitrogen, Hearing impairment, Tremor, A... ORPHA:90321
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemia, Hypocalcemic tetany, ... ORPHA:79444
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Laryngeal dystonia, Sensorineural ... ORPHA:79443
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia, Hearing impairment OMIM:101800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, Short-segment aganglionic megacolon, Hypoplasia of the semicircular canal, Absent br... OMIM:609136
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:423
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Dystonia ORPHA:79330
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Optic di... ORPHA:909
Trisomy 10P
Low-set ears, Low voltage EEG, EEG with focal spikes, Posteriorly rotated ears, Abnormal auditory... ORPHA:171929
Cockayne Syndrome B
Abnormal pinna morphology, Decreased nerve conduction velocity, Tremor, Abnormal auditory evoked ... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Decreased nerve conduction velocity, Tremor, Abnormal auditory evoked ... OMIM:216400
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydroc... ORPHA:401973
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Hyperphosphatemia, Hypocalcemia 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)