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Gene: Sfxn3 MGI:2137679

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Gene Summary

Name:
sideroflexin 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
increased circulating insulin level Sfxn3tm1b(KOMP)Wtsi HOM Early adult 1.61×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 50% (1 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 50% (1 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Forepaw

13 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Ear epidermis immunophenotyping

Images

9 Images

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Legacy Phenotype Associated Images
Sfxn3tm1b(KOMP)Wtsi
HOM, Male, WTSI
Sfxn3tm1b(KOMP)Wtsi
HOM, Male, WTSI
Sfxn3tm1b(KOMP)Wtsi
HOM, Male, WTSI
Sfxn3tm1b(KOMP)Wtsi
HOM, Male, WTSI
Sfxn3tm1b(KOMP)Wtsi
HOM, Male, WTSI

View all 65 images

Sfxn3tm1b(KOMP)Wtsi
Fused cornea and lens, HOM, Male, WTSI

Human diseases caused by Sfxn3 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 Sfxn3 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
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... ORPHA:276580
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... ORPHA:276575
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
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
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... ORPHA:552
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... ORPHA:263455
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... ORPHA:293964
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:2298
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia ORPHA:79237
Congenital Generalized Lipodystrophy
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females ORPHA:528
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... ORPHA:71212
Rabson-Mendenhall Syndrome
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... ORPHA:769
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79086
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu... ORPHA:508
Atypical Werner Syndrome
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... OMIM:269700
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Liver Disease, Severe Congenital
Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemia OMIM:619991
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968

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 Sfxn3

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 Sfxn3.

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

Title Journal IMPC Allele PubMed ID
The mitochondrial protein Sideroflexin 3 (SFXN3) influences neurodegeneration pathways in vivo. The FEBS journal (February 2022) Sfxn3tm1b(KOMP)Wtsi PMC9542548
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Sfxn3tm1b(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Sfxn3tm1b(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sfxn3tm1b(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sfxn3tm1b(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Sfxn3tm1b(KOMP)Wtsi PMC5827107
Sideroflexin 3 is an α-synuclein-dependent mitochondrial protein that regulates synaptic morphology. Journal of cell science (January 2017) Sfxn3tm1b(KOMP)Wtsi PMC5278670

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MGI Allele Allele Type Produced
Sfxn3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sfxn3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sfxn3tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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