Gene Summary

Name:
FYVE, RhoGEF and PH domain containing 3
Synonyms:
ZFYVE5,  5830461L01Rik

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
decreased leukocyte cell number Fgd3em1(IMPC)Ccpcz HOM Early adult 2.08×10-05
abnormal testis morphology Fgd3em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Fgd3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Fgd3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating creatinine level Fgd3em1(IMPC)Ccpcz HOM Early adult 7.03×10-06
decreased exploration in new environment Fgd3em1(IMPC)Ccpcz HOM Early adult 2.07×10-06
decreased lymphocyte cell number Fgd3em1(IMPC)Ccpcz HOM Early adult 3.00×10-05

Download data as:  TSV  XLS

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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 Hind Leg and Hip

34 Images

X-ray

XRay Images Whole Body Dorso Ventral

34 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Forepaw

17 Images

X-ray

XRay Images Skull Lateral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

Human diseases caused by Fgd3 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 Fgd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Immunodeficiency 8
Lymphopenia OMIM:615401
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Spinocerebellar Ataxia 32
Testicular atrophy, Cognitive impairment, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cognitive impairment, Male infertility, Azoospermia ORPHA:276183
Immunodeficiency 24
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... OMIM:615897
Immunodeficiency 19
Lymphopenia OMIM:615617
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism OMIM:618165
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia OMIM:267500
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... ORPHA:481
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Amenorrhea, Hypogonadotropic hypogonadism, Anemia, Elevated tr... OMIM:604250
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Polycystic ovaries, Type I diabe... ORPHA:275555
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy OMIM:613987
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Irritability, Decreased serum creatinine, Decreased circulating renin level OMIM:300539
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia ORPHA:54057
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Micropenis, Lymphopenia, Hypothyroidism, Hy... OMIM:617575
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Elevated circulating creatine kinase concentration, Decreased fertility OMIM:313200
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Ataxia-Telangiectasia
Type II diabetes mellitus, Cognitive impairment, Polycystic ovaries, Abnormal testis morphology, ... ORPHA:100
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splenomegaly, Auto... OMIM:617514
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Genital ulcers, Hemolytic anemia, Lymphopenia OMIM:616744
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Hemochromatosis, Type 1
Testicular atrophy, Increased serum iron, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism,... OMIM:235200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... OMIM:235400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612926
Diamond-Blackfan Anemia 5
Hypospadias, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Reticulocytopenia OMIM:612528
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior, Megaloblastic anemia, Hyperuricemia, Hyperuricosuria OMIM:300322
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Immunodeficiency 31C
Lymphopenia, Hypothyroidism, Diabetes mellitus, Delayed puberty, Autoimmune hemolytic anemia OMIM:614162
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Decreased HDL cholesterol concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration, Apathy, Pr... ORPHA:247691
Mirage Syndrome
Hypospadias, Hyponatremia, Adrenal insufficiency, Hyperkalemia, Leukopenia, Anemia, Lymphopenia, ... OMIM:617053
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Abnormality of iron homeostasis, Infertility, Amenorrhea, Hypogonadotropic hy... ORPHA:465508
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Irritability, Lymphopenia, Premature ovarian insufficiency ORPHA:391307
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mell... OMIM:222300
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia ORPHA:90060
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Lymphopenia ORPHA:277
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia OMIM:618624
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... OMIM:618849
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst, Decreased HDL cholesterol concentration, Iron deficiency anemia, Decreased serum cre... OMIM:618885
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... ORPHA:90038
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating creatinine concentration, Varicocele, Retrograde ejaculat... ORPHA:49041
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD3-positive T cells, Autoimmun... ORPHA:760
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Supernumerary nipple OMIM:614376
Marburg Hemorrhagic Fever
Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Elevated circula... ORPHA:99826
Ataxia-Telangiectasia
Leukemia, Hypoplasia of the thymus, Abnormal spermatogenesis, Decreased proportion of CD4-positiv... OMIM:208900
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... OMIM:613179
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Maturity-onset ... OMIM:137920
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Retrograde ejaculation, Increased blood ur... ORPHA:230
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Aplasia of the thymus, Lymphopenia OMIM:242700
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Absces... ORPHA:36234
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Cognitive impairment, Anemia, Micropenis, Lymphopenia, ... OMIM:616541
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Cowden Syndrome 1
Goiter, Ovarian cyst, Thyroid adenoma, Varicocele, Hyperthyroidism, Ovarian carcinoma, Thyroiditi... OMIM:158350
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Elevated circulating thyroid-stimulating hormone... OMIM:242900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased proportion of CD3-positive T cells, Reduced natu... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistu... ORPHA:35078
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
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
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... ORPHA:90362
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Emotional lability, Increased blood urea nitrogen OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Anemia, Hyperuricemia OMIM:174000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Spontaneous abortion, Lymphopenia... ORPHA:454836
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration, Pancreatic ... ORPHA:730
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentr... OMIM:615934
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alp... ORPHA:3261
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly OMIM:616100
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomegaly ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, T lympho... OMIM:600802
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Anemia, Abnormality of th... ORPHA:1830
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Prostatitis, Elevated circulating creatinine concentration... ORPHA:449395
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Cognitive impairment, Lymphopenia, Thrombocytopenia ORPHA:93552
Cushing Disease
Adrenal hyperplasia, Leukocytosis, Secondary amenorrhea, Increased urinary cortisol level, Oligom... ORPHA:96253
Yellow Fever
Leukocytosis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine... ORPHA:99829
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia ORPHA:508542
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Anxiety, Ovarian carcinoma, Impotence, Decreased serum ... ORPHA:273
Popov-Chang syndrome
Self-injurious behavior, Lymphopenia OMIM:618428
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Lymphopenia, Mental deterioration, Thrombocytopenia, Anxiety, Elevated ... ORPHA:319213
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Small intestine ca... ORPHA:99889
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Splenomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia OMIM:617591
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopen... ORPHA:340
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Cognitive impairment, Anemia, Lymphopenia ORPHA:935
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... OMIM:615688
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:319218
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Primary Sjögren Syndrome
Dementia, Normocytic anemia, Leukopenia, Normochromic anemia, Cognitive impairment, Parotitis, Va... ORPHA:289390
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Autoimmune thrombocytopenia, Lymphopenia, Hypothyroidism, T lymphocytopenia OMIM:607944
Whim Syndrome
Neutropenia, Cervix cancer, Parotitis, Lymphopenia, Abnormality of neutrophil morphology ORPHA:51636
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Abnormality of the endoc... ORPHA:391487
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Aplastic anemia, Anemia, Lymphopenia OMIM:127550
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th... ORPHA:84064
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma ORPHA:228119
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Hypokalemia, Lymphopenia, Decreased propor... OMIM:619573
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Hemolytic anemia, Lymphopenia, Splenomegaly ORPHA:1572
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Bile duct proliferation, Elevated circulating creatinine concentration, Hyper... OMIM:619534
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Elevated circulating creatinine conce... ORPHA:91500
Charge Syndrome
Hypoparathyroidism, Labial hypoplasia, Hypogonadotropic hypogonadism, Decreased response to growt... OMIM:214800

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 Fgd3

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 Fgd3.

No publications found that use IMPC mice or data for Fgd3.

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MGI Allele Allele Type Produced
Fgd3tm40096(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fgd3em1(IMPC)Ccpcz Exon Deletion Mice
Fgd3tm270455(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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