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Gene: Fbxw9 MGI:1915878

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Gene Summary

Name:
F-box and WD-40 domain protein 9
Synonyms:
1110017H11Rik,  Fbw9

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
preweaning lethality, complete penetrance Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
abnormal thyroid gland morphology Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
anophthalmia Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
preweaning lethality, incomplete penetrance Fbxw9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
absent lymph nodes Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
abnormal trachea morphology Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
absent spleen Fbxw9tm1a(EUCOMM)Wtsi HET Early adult 0.00
abnormal spleen morphology Fbxw9tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased grip strength Fbxw9tm1b(EUCOMM)Wtsi HET Early adult 1.18×10-06

Download data as:  TSV  XLS

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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 100% (2 of 2)
Aorta 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 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
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 100% (2 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 100% (2 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)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 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 100% (2 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 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle 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 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 100% (2 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 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system 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%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
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%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
vascular system 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 Skull Dorso Ventral Orientation

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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X-ray

XRay Images Forepaw

17 Images

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Adult LacZ

LacZ Images Wholemount

11 Images

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Histopathology

Images

3 Images

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Human diseases caused by Fbxw9 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 Fbxw9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Goiter, Tracheoesophageal fistula, Lymphadenopathy, Nodular goiter, Ana... ORPHA:142
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism ORPHA:97285
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Pendred Syndrome
Hyperparathyroidism, Goiter, Tracheal stenosis, Thyroid carcinoma, Hypothyroidism ORPHA:705
Bangstad Syndrome
Abnormally large globe, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter OMIM:210740
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus... OMIM:274300
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter OMIM:180295
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Tracheal stenosis, Sialadenitis, Hashimoto thyroiditis,... ORPHA:64744
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... OMIM:225250
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Blepharochalasis And Double Lip
Goiter OMIM:109900
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... OMIM:613239
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... ORPHA:1332
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... OMIM:275000
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Anencephaly 2
Anophthalmia OMIM:619452
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Hydrolethalus
Tracheal atresia, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Matthew-Wood Syndrome
Annular pancreas, Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Microphthalmia, Aplas... ORPHA:2470
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Maffucci Syndrome
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla... ORPHA:163634
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Tracheoesophageal fistula, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:77298
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Neonatal death OMIM:601612
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... OMIM:609152
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Optic nerve hypoplasia OMIM:610125
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Trisomy 13
Aplasia/Hypoplasia of the iris, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3378
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:139471
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulating thyroid-s... ORPHA:226313
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Tracheal stenosis, Tracheoesophageal fistula ORPHA:93941
Pediatric-Onset Graves Disease
Graves disease, Goiter, Puberty and gonadal disorders, Splenomegaly, Increased circulating free T... ORPHA:525731
Cowden Syndrome 5
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615108
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Cowden Syndrome 6
Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid... OMIM:615109
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Neonatal death, Hy... OMIM:601186
Cockayne Syndrome Type 2
Male hypogonadism, Cryptorchidism, Anophthalmia ORPHA:90322
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Mccune-Albright Syndrome
Precocious puberty, Bone marrow hypocellularity, Increased circulating cortisol level, Increased ... ORPHA:562
Brain-Lung-Thyroid Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... ORPHA:209905
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... OMIM:218700
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... OMIM:146510
Cowden Syndrome 1
Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroidism, Hydroc... OMIM:158350
Feingold Syndrome 1
Accessory spleen, Asplenia, Annular pancreas, Polysplenia OMIM:164280
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con... ORPHA:90674
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Tracheal stenosis OMIM:601427
Jung Syndrome
Tracheal stenosis, Hypothyroidism ORPHA:2321
Walker-Warburg Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:899
Trisomy 1Q
Cryptorchidism, Anophthalmia ORPHA:261344
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Meckel Syndrome
Accessory spleen, Congenital hepatic fibrosis, Pancreatic fibrosis, Asplenia, Pancreatic cysts, C... ORPHA:564
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:90673
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Vacterl With Hydrocephalus
Tracheoesophageal fistula, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Biliary atresia, Hepatomegaly, Asplenia OMIM:306955
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Splenomegaly, Asplenia, Bile duct pro... OMIM:249000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Cowden Syndrome 7
Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter OMIM:616858
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Tsh-Secreting Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:91347
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituit... OMIM:206900
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,... ORPHA:95712
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Cockayne Syndrome Type 1
Male hypogonadism, Cryptorchidism, Anophthalmia ORPHA:90321
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Anophthalmia, Microphthalmia OMIM:615877
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Adrenal hypoplasia, Anterior pituitary hypopla... ORPHA:264200
Holoprosencephaly
Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Microphthalmia, Diab... ORPHA:2162
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Tracheoesophageal fistula, Anophthalmia, Microphthalmia ORPHA:2538
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Phace Association
Microphthalmia, Congenital hypothyroidism, Optic nerve hypoplasia, Lingual thyroid OMIM:606519
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227990
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Cryptorchidism, Thyroid agenesis, Hypothyroidism, Thyroid dysgenesis, Thyroid hypoplasia, Ectopic... ORPHA:3047
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2250
Carney Complex, Type 1
Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... OMIM:160980
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Adrenal insufficiency, Lymphadenopathy OMIM:609981
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Cryptorchidism, Anophthalmia ORPHA:1101
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Decreased c... ORPHA:226307
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary... ORPHA:227982
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy, Thyroiditis OMIM:619375
Tetraamelia-Multiple Malformations Syndrome
Tracheal stenosis, Septo-optic dysplasia, Cryptorchidism, Microphthalmia ORPHA:3301
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Nodular goiter, Premature thelarche, Type I diabetes mellitus, Polycystic ovaries ORPHA:371428
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Phace Syndrome
Ectopic thyroid, Hypothyroidism, Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Autosomal Dominant Progressive External Ophthalmoplegia
Hypothyroidism, Diabetes mellitus, Hyperthyroidism, Goiter ORPHA:254892
Fibular Hemimelia
Anophthalmia ORPHA:93323
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm ORPHA:276399
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... ORPHA:733
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Congenital hypothyroidism, Rieger anomaly, Thyroid hypoplasia ORPHA:521445
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating parathyroid horm... ORPHA:653
Charge Syndrome
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st... OMIM:214800
Charge Syndrome
Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Abnormality of the adrenal glands, T... ORPHA:138
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Testicular neoplasm, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm of ... ORPHA:83469
Hurler-Scheie Syndrome
Tracheal stenosis, Splenomegaly OMIM:607015
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Multiple Endocrine Neoplasia, Type Iib
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Nod... OMIM:162300
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology ORPHA:54251
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Cowden Syndrome
Follicular thyroid carcinoma, Goiter, Neoplasm of the thyroid gland, Abnormality of the thyroid g... ORPHA:201
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Omenn Syndrome
Splenomegaly, Hypothyroidism, Lymphadenopathy, Thyroiditis ORPHA:39041
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Treacher-Collins Syndrome
Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Tracheoesophageal fi... ORPHA:861
Fraser Syndrome 1
Abnormal thymus morphology, Bilateral microphthalmos, Cryptorchidism, Anophthalmia OMIM:219000
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis OMIM:620183
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia, Abnormal testis morphology ORPHA:2556
Microphthalmia, Syndromic 2
Adrenal insufficiency, Cryptorchidism, Anophthalmia, Hypothyroidism, Microphthalmia OMIM:300166
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis ORPHA:3348
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... ORPHA:79078
Keutel Syndrome
Tracheal atresia ORPHA:85202
Mirage Syndrome
Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen OMIM:617053
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Microphthalmia OMIM:302960
Vacterl/Vater Association
Tracheal stenosis, Tracheoesophageal fistula, Cryptorchidism ORPHA:887
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Microphthalmia, Syndromic 6
Anterior hypopituitarism, Cryptorchidism, Anophthalmia, Hypothyroidism, Adrenal hypoplasia, Micro... OMIM:607932
Fraser Syndrome
Tracheal stenosis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2052
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Type I diabetes mellitus, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Enlarged tonsils, ... OMIM:606367
Brachytelephalangic Chondrodysplasia Punctata
Tracheal stenosis, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Hepatosplenomegaly ORPHA:93352
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Adrenal hypoplasia, Microphthalmia, Thyroid hypoplasia, Abnormality of the hypoth... ORPHA:2166
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Focal Dermal Hypoplasia
Supernumerary nipple, Aniridia, Cryptorchidism, Anophthalmia, Hypoplastic nipples, Microphthalmia OMIM:305600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia ORPHA:261537
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Mowat-Wilson Syndrome
Asplenia ORPHA:2152
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis, Cryptorchidism OMIM:217980
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia ORPHA:261552
Proboscis Lateralis
Optic nerve hypoplasia, Anophthalmia, Microphthalmia ORPHA:141099
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp... OMIM:620186
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis ORPHA:1790
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Abnormal testi... ORPHA:85450
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:618935
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Tracheal stenosis ORPHA:2637
Hydrolethalus Syndrome 1
Accessory spleen, Tracheal stenosis, Adrenal gland dysgenesis, Stillbirth, Microphthalmia OMIM:236680
Microphthalmia With Limb Anomalies
True anophthalmia, Cryptorchidism, Microphthalmia ORPHA:1106
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris ORPHA:169090
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia, Stillbirth OMIM:308050
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Branchiooculofacial Syndrome
Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:113620
Pearson Syndrome
Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Pancytopenia, Abnormality of the ... ORPHA:699
Cartilage-Hair Hypoplasia
Tracheal stenosis, Aplasia/Hypoplasia affecting the eye ORPHA:175
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Lymphadenopathy, Splenomegaly OMIM:301078
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Fraser Syndrome 3
Tracheal atresia, Stillbirth OMIM:617667
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Lymphadenopathy, Mediastinal lymp... ORPHA:139411
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:3206
Tafro Syndrome
Splenomegaly, Hepatosplenomegaly, Elevated vascular endothelial growth factor level, Lymphadenopathy ORPHA:457077
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Craniofacioskeletal Syndrome
Tracheal stenosis, Absent gallbladder, Cryptorchidism OMIM:300712
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Castleman Disease
Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Geleophysic Dysplasia 3
Tracheal stenosis OMIM:617809
Lymphatic Filariasis
Lymphadenitis, Orchitis, Abnormality of the lymphatic system, Vaginal hydrocele, Lymphadenopathy,... ORPHA:2035
Smith-Lemli-Opitz Syndrome
Tracheal stenosis, Cryptorchidism, Aplasia/Hypoplasia affecting the eye ORPHA:818
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Tracheal stenosis, Absent gallbladder, Cryptorchidism ORPHA:163979
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Dec... ORPHA:672
Granulomatosis With Polyangiitis
Tracheal stenosis OMIM:608710
Frontometaphyseal Dysplasia 2
Tracheal stenosis, Delayed puberty, Cryptorchidism OMIM:617137
Larsen Syndrome
Tracheal stenosis, Cryptorchidism OMIM:150250
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Geleophysic Dysplasia 1
Laryngotracheal stenosis, Tracheal stenosis OMIM:231050
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Enlargement of parotid gland, Splenomeg... ORPHA:50918
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Abnorma... ORPHA:99889
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... OMIM:619503
Microphthalmia, Syndromic 1
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:309800
Craniofacial Microsomia 1
Anophthalmia, Microphthalmia OMIM:164210
Sarcoidosis
Enlarged lacrimal glands, Parotitis, Abnormal lymph node morphology, Enlargement of parotid gland... ORPHA:797

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 Fbxw9

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 Fbxw9.

No publications found that use IMPC mice or data for Fbxw9.

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
Fbxw9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fbxw9tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Fbxw9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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