Gene Summary

Name:
f-box protein 9
Synonyms:
9030401P18Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 1.07×10-06
increased basophil cell number Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 6.39×10-05
increased circulating HDL cholesterol level Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 9.14×10-05
decreased exploration in new environment Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 1.44×10-05
small adrenal glands Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating cholesterol level Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 8.02×10-08
decreased prepulse inhibition Fbxo9tm1b(EUCOMM)Hmgu HOM Early adult 3.69×10-05

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Viewing: all phenotypes

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 Dorso Ventral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Hind Leg and Hip

4 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Gross Pathology and Tissue Collection

Images

8 Images

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
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Immunodeficiency 88
Eosinophilia OMIM:619630
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Eosinophilia OMIM:248100
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... OMIM:301033
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Diabetes mellitus, Hyperlipidemia, Hypertriglyceridemia OMIM:610947
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Candidiasis, Familial, 2
Hypereosinophilia, Decreased serum iron OMIM:212050
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:615703
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Halothane Hepatitis
Eosinophilia OMIM:234350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia OMIM:253600
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification, Splenomegaly ORPHA:75234
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Anxiety, Eosinophilia OMIM:618092
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Cinca Syndrome
Leukocytosis, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-reactive protein c... OMIM:607115
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Diabetes mellitus, Hypertriglyceridemia, ... OMIM:612526
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Abnormality of the endocrine system, Hyperuricemia, Hype... ORPHA:77296
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypercholesterolemia, Hypogonadism, Diabetes mellitus ORPHA:181393
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Wells Syndrome
Eosinophilia ORPHA:901
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Steatorrhea, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive... ORPHA:2070
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Decr... OMIM:616828
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Temple Syndrome
Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia, Cryptorchidism,... OMIM:616222
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Galactokinase Deficiency
Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Premature ovarian insufficiency, Hyp... ORPHA:79237
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Normocytic anemia,... ORPHA:199299
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Type I diabet... OMIM:304790
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dementia, Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Mental deterioration OMIM:208920
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholest... OMIM:278000
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thyroiditis, Hypothyroidism, ... ORPHA:39041
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia, Hypothyroidism OMIM:618999
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia ORPHA:353298
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Cognitive impairment, Progressive neurologic deterioration, Hypercholesterolemia, H... ORPHA:90065
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... ORPHA:404
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Hypereosinophilia, Thyroiditis, Elevated circulating C-reactive protein concentrati... OMIM:617388
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Emotional la... OMIM:615830
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... ORPHA:403
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty ORPHA:254531
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, He... OMIM:182290
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Hy... ORPHA:247585
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Cog4-Cdg
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly, Irritability ORPHA:263501
Laron Syndrome
Hypercholesterolemia, Abnormality of the endocrine system, Delayed puberty ORPHA:633
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Abscess, Hyperbilirubinemia, Abnormality of the testis size, Eo... ORPHA:400
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... OMIM:238600
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... OMIM:619632
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:251274
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Netherton Syndrome
Hypereosinophilia OMIM:256500
Congenital Generalized Lipodystrophy
Precocious puberty in females, Polycystic ovaries, Hypercholesterolemia, Diabetes mellitus, Hyper... ORPHA:528
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alp... ORPHA:3261
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Cryptorchidism, Hypercholesterolemia, Precocious puberty ORPHA:96184
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... OMIM:615954
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Thyroiditis ORPHA:139402
Cushing Disease
Adrenal hyperplasia, Leukocytosis, Increased urinary cortisol level, Fatiguable weakness of proxi... ORPHA:96253
Igg4-Related Pachymeningitis
Mental deterioration, Eosinophilia, Elevated circulating C-reactive protein concentration, Parotitis ORPHA:449427
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Abnormal circulating thy... ORPHA:90674
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Cholesterol gallstones, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol con... ORPHA:209902
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Alveolar Echinococcosis
Pancreatic cysts, Anemia, Abnormal spleen morphology, Abnormality of adrenal morphology, Eosinoph... ORPHA:284
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Vacuolated lymphocytes, Cognitive impairment, Anemia, Bone-marrow foa... ORPHA:275761
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Smith-Magenis Syndrome
Self-injurious behavior, Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Anxiety, Pre... ORPHA:819
Scleroderma
Elevated circulating creatine kinase concentration, Anxiety, Cognitive impairment, Hypereosinophilia ORPHA:801
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Gaisböck Syndrome
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... ORPHA:90041
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive p... ORPHA:231580
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Cholestasis, Progressive Familial Intrahepatic, 8
Bile duct proliferation, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbiliru... OMIM:619662
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... ORPHA:90791
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Cholelithiasis, Diabetes mellitus, Liver abscess ORPHA:69663
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Increased circulating free fatty acid level, Hypercholestero... ORPHA:2457
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Polycystic ovaries, Splenomegaly, Hypercholes... ORPHA:370
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Incontinentia Pigmenti
Leukocytosis, Hypoplastic nipples, Breast aplasia, Eosinophilia, Breast hypoplasia, Supernumerary... OMIM:308300
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Dementia, Anemia, Splenomegaly, Myeloproliferative disorder, Hepato... ORPHA:3260
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Polycystic ovaries, Anemia, Splenomegaly, Hyp... ORPHA:264580
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Polycystic ovaries, Anemia, Splenomegaly, Hyp... ORPHA:79240
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... ORPHA:99889
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... ORPHA:470
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin sy... ORPHA:90790
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... ORPHA:508533
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Abnormal pancreas morphology, Abnormality of the submandibula... ORPHA:449432
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele t... ORPHA:96181
Incontinentia Pigmenti
Eosinophilia, Cognitive impairment, Supernumerary nipple ORPHA:464
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Cognitive impairment,... ORPHA:79259
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Pancreatic cysts, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia OMIM:274000
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... ORPHA:786
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Decreased testicular size, Hypertriglyceridemia OMIM:610644
Coccidioidomycosis
Abnormality of the spleen, Abscess, Abnormality of the endocrine system, Cognitive impairment, Gr... ORPHA:228123
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Thyroiditis, Sialadenitis, Orchitis, Eosinophilia, Elevate... ORPHA:449563
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Elevated circulating creatinine concentration, Thyroiditis... ORPHA:449395
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Polycystic ovaries,... OMIM:151660
Lymphatic Filariasis
Orchitis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis ORPHA:2035
Immunodeficiency 47
Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Accessory spleen, Thrombocytop... OMIM:300972
Sarcoidosis
Hypercalcemia, Diabetes insipidus, Leukopenia, Increased T cell count, Anemia, Parotitis, Abnorma... ORPHA:797
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... ORPHA:95699
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Fatigable weakness of bulbar muscles, Cognit... ORPHA:273
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Bilateral cryptorchidism, Male hypogonadism OMIM:619471
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Diabetes insipidus, Hypokalemia, Anxiety, Self-injurious behavior, Anemia, Hypophos... ORPHA:534
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Pulmonary carcinoid tumor, Hypertriglyceridemia ORPHA:363618
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Cryptorchid... OMIM:309000
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Splenomegaly ORPHA:75565
Alagille Syndrome 1
Hypercholesterolemia, Papillary thyroid carcinoma, Hypertriglyceridemia OMIM:118450
Viss Syndrome
Hypereosinophilia, Hypothyroidism OMIM:619472
Tetraamelia Syndrome 1
Adrenal gland agenesis, Asplenia OMIM:273395
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis OMIM:236680
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Bile duct proliferation, Elevated circulating creatinine concentration, Hyper... OMIM:619534
Doors Syndrome
Adrenal hyperplasia, Thrombocytosis, Congenital hypothyroidism ORPHA:79500
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Dermatomyositis
Abnormal eosinophil morphology 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.

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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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