Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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, incomplete penetrance Fbxw9tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal trachea morphology Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
abnormal thyroid gland morphology Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
increased grip strength Fbxw9tm1b(EUCOMM)Wtsi HET Early adult 1.07×10-06
absent lymph nodes Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
preweaning lethality, complete penetrance Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
absent spleen Fbxw9tm1a(EUCOMM)Wtsi HET Early adult 0.00
anophthalmia Fbxw9tm1a(EUCOMM)Wtsi HOM Early adult 0.00
abnormal spleen morphology Fbxw9tm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 50% (1 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 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)
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)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver 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)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 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)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 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)
Uterus N/A heterozygote 0.0% (0 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.


XRay Images Whole Body Lateral Orientation

17 Images


XRay Images Forepaw

17 Images


XRay Images Skull Lateral Orientation

17 Images


XRay Images Skull Dorso Ventral Orientation

17 Images



3 Images


XRay Images Whole Body Dorso Ventral

17 Images

Adult LacZ

LacZ Images Wholemount

11 Images

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
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies 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
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Anophthalmia, Neonatal death OMIM:615524
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinom... ORPHA:142
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... 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
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Pendred Syndrome
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter ORPHA:705
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Abnormally large globe, Goiter OMIM:210740
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Blepharochalasis And Double Lip
Goiter OMIM:109900
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... ORPHA:1332
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Anencephaly 2
Anophthalmia OMIM:619452
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Mic... ORPHA:2470
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Microphthalmia, Cryptorchidism, Anophthalmia, Tracheal atresia ORPHA:2189
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Tracheoesophageal fistula ORPHA:77298
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia OMIM:610125
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Trisomy 13
Aplasia/Hypoplasia of the iris, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3378
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Microphthalmia ORPHA:139471
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Tracheal atresia OMIM:601612
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased circul... ORPHA:525731
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Neonatal death, Hy... OMIM:601186
Cockayne Syndrome Type 2
Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90322
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... ORPHA:209905
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Abnormality of the spleen, Tracheoesophageal fistula ORPHA:93941
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... ORPHA:97289
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Trisomy 1Q
Cryptorchidism, Anophthalmia ORPHA:261344
Walker-Warburg Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:899
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro... OMIM:249000
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia OMIM:306955
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Vacterl With Hydrocephalus
Microphthalmia, Cryptorchidism, Anophthalmia, Tracheoesophageal fistula ORPHA:3412
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... ORPHA:91347
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology ORPHA:543
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Decreased response to growth hormone stimulation test, Congenital hypothyroidism OMIM:601427
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ... OMIM:206900
Jung Syndrome
Tracheal stenosis, Hypothyroidism ORPHA:2321
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia OMIM:615877
Diabetes mellitus, Anophthalmia, Abnormality of the spleen, Cryptorchidism, Panhypopituitarism, M... ORPHA:2162
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchid... ORPHA:264200
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism OMIM:606519
Cockayne Syndrome Type 1
Male hypogonadism, Anophthalmia, Cryptorchidism ORPHA:90321
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia, Tracheoesophageal fistula ORPHA:2538
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Tracheal Agenesis
Tracheal atresia ORPHA:3346
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Hypogonadism ORPHA:2250
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 54
Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lymphadenopathy OMIM:609981
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Thyroiditis, Lymphadenopathy OMIM:619375
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia... ORPHA:227990
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Cryptorchidism, Anophthalmia ORPHA:1101
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia... ORPHA:227982
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism ORPHA:42775
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Fibular Hemimelia
Anophthalmia ORPHA:93323
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter ORPHA:254892
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Buphthalmos, Rieger anomaly, Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Charge Syndrome
Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Tracheoesophageal fistula, Abnormali... ORPHA:138
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyp... ORPHA:653
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... OMIM:214800
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Aniridia, Lymphadenopathy ORPHA:654
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia OMIM:300952
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian neoplasm, Lym... ORPHA:83469
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Cryptorchidism, Septo-optic dysplasia, Tracheal stenosis ORPHA:3301
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Aden... ORPHA:201
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Omenn Syndrome
Splenomegaly, Hypothyroidism, Thyroiditis, Lymphadenopathy ORPHA:39041
Fraser Syndrome 1
Anophthalmia, Cryptorchidism, Abnormal thymus morphology, Bilateral microphthalmos OMIM:219000
Treacher-Collins Syndrome
Cryptorchidism, Tracheoesophageal fistula, Abnormality of the adrenal glands, Hypoplasia of the t... ORPHA:861
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal testis morphology, Abnormal lymph node morphology ORPHA:54251
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... ORPHA:79078
Microphthalmia, Syndromic 2
Anophthalmia, Cryptorchidism, Adrenal insufficiency, Microphthalmia, Hypothyroidism OMIM:300166
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Fraser Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Tracheal stenosis ORPHA:2052
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia, Abnormal testis morphology ORPHA:2556
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Hurler-Scheie Syndrome
Tracheal stenosis, Splenomegaly OMIM:607015
Microphthalmia, Syndromic 6
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microphthalmia, Anterior h... OMIM:607932
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes mellitus, Hyp... OMIM:606367
Holoprosencephaly-Postaxial Polydactyly Syndrome
Adrenal hypoplasia, Cryptorchidism, Microphthalmia, Abnormality of the hypothalamus-pituitary axi... ORPHA:2166
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia ORPHA:261537
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Cryptorchidism, Hypoplastic nipples, Aniridia, Microphthalmia OMIM:305600
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Mowat-Wilson Syndrome
Asplenia ORPHA:2152
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia ORPHA:261552
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Microphthalmia With Limb Anomalies
Microphthalmia, Cryptorchidism, True anophthalmia ORPHA:1106
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, ... ORPHA:85450
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy ORPHA:169090
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Thyroid hypoplasia, Adrenal hypoplasia OMIM:308050
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Microphthalmia OMIM:302960
Microcephaly 30, Primary, Autosomal Recessive
Tracheal stenosis OMIM:620183
Tracheobronchopathia Osteochondroplastica
Tracheal stenosis ORPHA:3348
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Branchiooculofacial Syndrome
Anophthalmia, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopic thymus tissue OMIM:113620
Vacterl/Vater Association
Tracheal stenosis, Cryptorchidism, Tracheoesophageal fistula ORPHA:887
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Brachytelephalangic Chondrodysplasia Punctata
Tracheal stenosis, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:79345
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Paragangl... ORPHA:139411
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Hepatosplenomegaly ORPHA:93352
Stüve-Wiedemann Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:3206
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Tracheal stenosis, Cryptorchidism OMIM:217980
Hydrolethalus Syndrome 1
Accessory spleen, Stillbirth, Adrenal gland dysgenesis, Tracheal stenosis, Microphthalmia OMIM:236680
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Tracheal stenosis ORPHA:2637
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Hypomandibular Faciocranial Dysostosis
Tracheal stenosis ORPHA:1790
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Pallister-Hall Syndrome
Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h... ORPHA:672
Cartilage-Hair Hypoplasia
Tracheal stenosis, Aplasia/Hypoplasia affecting the eye ORPHA:175
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Vaginal hydrocele, Lymphadenopathy,... ORPHA:2035
Fraser Syndrome 3
Stillbirth, Tracheal atresia OMIM:617667
Igg4-Related Submandibular Gland Disease
Abnormality of the thyroid gland, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphad... ORPHA:449432
Craniofacioskeletal Syndrome
Tracheal stenosis, Absent gallbladder, Cryptorchidism OMIM:300712
Geleophysic Dysplasia 3
Tracheal stenosis OMIM:617809
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit... ORPHA:99889
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... ORPHA:50918
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
Granulomatosis With Polyangiitis
Tracheal stenosis OMIM:608710
Frontometaphyseal Dysplasia 2
Tracheal stenosis, Cryptorchidism, Delayed puberty OMIM:617137
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Cryptorchidism, Hepatosplenomegaly, Small ... OMIM:619503
Larsen Syndrome
Tracheal stenosis, Cryptorchidism OMIM:150250
Microphthalmia, Syndromic 1
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:309800
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Geleophysic Dysplasia 1
Tracheal stenosis OMIM:231050
Hyperthyroidism, Diabetes insipidus, Enlarged lacrimal glands, Abnormal lymph node morphology, Ly... ORPHA:797


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.

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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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