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Gene: Fbxo9 MGI:1918788

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Gene Summary

Name:
f-box protein 9
Synonyms:
9030401P18Rik

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
increased eosinophil cell number Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 8.43×10-05
increased circulating HDL cholesterol level Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 9.03×10-05
decreased prepulse inhibition Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 9.58×10-06
increased basophil cell number Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 4.84×10-05
small adrenal glands Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating cholesterol level Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 1.75×10-06
decreased exploration in new environment Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 1.64×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Eye Morphology

Images Slit Lamp

2 Images

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X-ray

XRay Images Hind Leg and Hip

4 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Fbxo9 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 Fbxo9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Diminished ability to concentrate, Cent... OMIM:301033
Immunodeficiency 88
Eosinophilia OMIM:619630
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism,... OMIM:620211
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Immunodeficiency 32B
Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Adrenal calcification, Hypercholesterolemia, Splenomegaly ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, ... OMIM:619802
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Morgagni-Stewart-Morel Syndrome
Memory impairment, Depression, Hyperuricemia, Abnormality of the endocrine system, Cognitive impa... ORPHA:77296
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Cinca Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenomegaly, ... OMIM:607115
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Diabetes mellitus, Hypercho... OMIM:612526
Wells Syndrome
Eosinophilia ORPHA:901
Eosinophilic Gastroenteritis
Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalb... ORPHA:2070
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Depression, Emotional lability, Macronodular adrenal hy... OMIM:219080
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia OMIM:306000
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T... OMIM:603554
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Hypothyroidism, Type I diabetes mellitus, Thromb... OMIM:304790
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h... ORPHA:79237
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... OMIM:615952
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Depression, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism,... OMIM:615830
Immunodeficiency 7
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia OMIM:615387
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyperuricemia, Decreased circulating AC... ORPHA:199299
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Increased LDL... OMIM:278000
Omenn Syndrome
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis, Hypothyroidism, Splenomegaly, ... ORPHA:39041
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Eosinophilia, Hepatosplenomegaly OMIM:618999
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Cognitive impairment, Dementia, Hypoalbuminem... OMIM:208920
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Hypogonadotropic hypogonadism ORPHA:353298
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Cog4-Cdg
Irritability, Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:2902
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Familial Hyperaldosteronism Type Ii
Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, G... ORPHA:404
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Familial Hyperaldosteronism Type I
Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, S... ORPHA:403
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration OMIM:201910
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Thyroiditis, ... OMIM:617388
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Leukocytosis, Cognitive impairment, Hypothyroidism, Progressive neurologic det... ORPHA:90065
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Cogn... OMIM:616267
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Increased... OMIM:615954
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Memory impairment, Depression, Emotional lability, Macr... ORPHA:189427
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Decreased testicu... OMIM:616222
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept... OMIM:602450
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Depression, Abnormal circulating thyroglobulin conce... ORPHA:90674
Cystic Echinococcosis
Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Abnormality of the testis size, Ovarian cys... ORPHA:400
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Laron Syndrome
Delayed puberty, Hypercholesterolemia, Abnormality of the endocrine system ORPHA:633
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,... OMIM:277460
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Hypokalemia OMIM:613677
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Smith-Magenis Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Abnormality of the thyroid gland OMIM:182290
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:251274
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Thyroiditis ORPHA:139402
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Igg4-Related Pachymeningitis
Elevated circulating C-reactive protein concentration, Confusion, Parotitis, Eosinophilia, Mental... ORPHA:449427
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... OMIM:243700
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia, Cryptorchidism ORPHA:96184
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Increased C-peptide level,... ORPHA:528
Angiostrongyliasis
Irritability, Hypereosinophilia ORPHA:74
Cushing Disease
Increased circulating ACTH level, Memory impairment, Depression, Emotional lability, Decreased eo... ORPHA:96253
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Type II diab... OMIM:615812
Netherton Syndrome
Hypereosinophilia OMIM:256500
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Thyroid carcinoma, Lymphocytosis, Neutropenia in presence of anti-ne... ORPHA:3261
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Cholesterol ... ORPHA:209902
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bon... ORPHA:275761
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Hypothyroidism, Precocious puberty, Attention deficit hype... ORPHA:819
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Alveolar Echinococcosis
Abnormal adrenal morphology, Liver abscess, Anemia, Abnormal spleen morphology, Eosinophilia, Cut... ORPHA:284
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Bile duct proliferation, Elevated circulating alpha-feto... OMIM:619662
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive p... ORPHA:231580
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating androstenedione concentration, Increased serum testosterone l... ORPHA:90791
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Idiopathic Hypereosinophilic Syndrome
Anemia, Memory impairment, Confusion, Myeloproliferative disorder, Leukocytosis, Neutrophilia, He... ORPHA:3260
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Cognitive impairment,... ORPHA:470
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Decreased e... OMIM:619632
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Increased circulating free fatty acid level, Hypercholest... ORPHA:2457
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Liver abscess, Hypercholesterolemia, Cholelithiasis ORPHA:69663
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Thrombocytopenia, Increased serum testosterone level, Hydrocele t... ORPHA:96181
Incontinentia Pigmenti
Attention deficit hyperactivity disorder, Eosinophilia, Supernumerary nipple, Cognitive impairment ORPHA:464
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Anemia, Abnormal erythrocyte enzyme concentration or activ... ORPHA:264580
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyperactive renin-angiotensin system, Adrenal hyperplasia, Hyponatremia, Decreased ... ORPHA:90790
Incontinentia Pigmenti
Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Eosinophilia, Supernumerary... OMIM:308300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, P... ORPHA:79240
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentrat... OMIM:201810
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ... ORPHA:99889
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormal pancreas morphology, Siala... ORPHA:449432
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Delayed puberty, Anemia, Hyperuricemia, Thyroiditis, Chronic n... ORPHA:79259
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... ORPHA:508533
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Hyperinsulinemia,... OMIM:176270
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia, Decreased testicular size OMIM:610644
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, A... ORPHA:786
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Coccidioidomycosis
Abnormality of the endocrine system, Cognitive impairment, Granuloma, Abnormality of the spleen, ... ORPHA:228123
Neuhauser Syndrome
Primary hypothyroidism, Hypercholesterolemia OMIM:249310
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Type II diabetes... OMIM:151660
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Abnormality of the anterior pituitary, Elevated circulating C-reactive ... ORPHA:449563
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Elevated circulating C-reactive protein concentration, Sia... ORPHA:449395
Immunodeficiency 47
Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Leukopenia, Sple... OMIM:300972
Lymphatic Filariasis
Hypereosinophilia, Orchitis, Hydrocele testis, Vaginal hydrocele ORPHA:2035
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, Pancreatic cysts OMIM:274000
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Splenomegaly, Conjugated hype... ORPHA:186
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Decreased circulating inhibin B concentration, Abnormal response to human chorio... ORPHA:95699
Sarcoidosis
Enlarged lacrimal glands, Abnormality of the adrenal glands, Anemia, Diabetes insipidus, Parotiti... ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypercholesterolemia OMIM:620454
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hyperlipidemia, Hypercholesterolemia, Insulin-resistant diabetes me... OMIM:248370
Bardet-Biedl Syndrome 20
Male hypogonadism, Hypercholesterolemia, Bilateral cryptorchidism OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Anemia,... ORPHA:534
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia, Pulmonary carcinoid tumor ORPHA:363618
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess OMIM:147060
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly ORPHA:75565
Alagille Syndrome 1
Hypertriglyceridemia, Hypercholesterolemia, Papillary thyroid carcinoma OMIM:118450
Viss Syndrome
Hypothyroidism, Hypereosinophilia OMIM:619472
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated amniotic fluid alpha... OMIM:309000
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Type I diabetes mellitus, Hypercholesterolemia OMIM:606721
Tetraamelia Syndrome 1
Adrenal gland agenesis, Asplenia OMIM:273395
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Accessory spleen OMIM:236680
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, Congenital hypothyroidism ORPHA:79500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Hyperbilirubinemia, Anterior pituitary hypoplasia, Bile duct proliferation, S... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration ORPHA:221

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 Fbxo9

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 Fbxo9.

No publications found that use IMPC mice or data for Fbxo9.

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
Fbxo9tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Fbxo9tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fbxo9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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