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Gene: Fgd3 MGI:1353657

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Gene Summary

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

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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
decreased exploration in new environment Fgd3em1(IMPC)Ccpcz HOM Early adult 3.99×10-06
decreased circulating creatinine level Fgd3em1(IMPC)Ccpcz HOM Early adult 6.88×10-06
abnormal seminal vesicle morphology Fgd3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Fgd3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lymphocyte cell number Fgd3em1(IMPC)Ccpcz HOM Early adult 3.00×10-05
decreased leukocyte cell number Fgd3em1(IMPC)Ccpcz HOM Early adult 1.69×10-05
small testis Fgd3em1(IMPC)Ccpcz HOM Early adult 0.00

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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 Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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X-ray

XRay Images Hind Leg and Hip

34 Images

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X-ray

XRay Images Whole Body Dorso Ventral

34 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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X-ray

XRay Images Forepaw

17 Images

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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
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c... OMIM:617872
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia, Cognitive impairment OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Cognitive impairment, Male infertility ORPHA:276183
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Kennedy Disease
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... ORPHA:481
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Thrombocytopenia, Decreased serum ... ORPHA:54057
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia, Irritability, ... OMIM:300539
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia OMIM:617056
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased circulating T4 concentration, Elevated circulating creatinine concentr... OMIM:608104
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Polycystic ovaries, Del... ORPHA:100
Tetragametic Chimerism
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... ORPHA:199310
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Reni Syndrome
Hypoalbuminemia, Mental deterioration, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorc... OMIM:617575
Osteopetrosis, Autosomal Recessive 9
Anemia, Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami... OMIM:308700
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus... ORPHA:232
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia OMIM:616744
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus, Thrombocytopenia, Polycy... ORPHA:275555
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Incr... OMIM:154230
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Hemochromatosis, Type 1
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:235200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Confusion, Elevated circulating creatinine concentration, Reti... OMIM:274150
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Diamond-Blackfan Anemia 5
Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hypospadias OMIM:612528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Mirage Syndrome
Microphallus, Decreased testicular size, Adrenal insufficiency, Lymphopenia, Leukopenia, Cryptorc... OMIM:617053
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hypogonadism, Elevated circulating creatinine concentrat... ORPHA:85450
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Iron deficiency anemia, Pineal cyst, Decreased HDL cholesterol concentration... OMIM:618885
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Memory impairment, Depression, Elevated circulating creatinine concentration, ... ORPHA:247691
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Short attention span, Splenomegaly, Hydrocele testis OMIM:605309
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... OMIM:618849
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te... ORPHA:465508
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia OMIM:620443
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Varicocele, Elevated circulating creatinine concentration, Hashimoto thyroidit... ORPHA:49041
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Supernumerary nipple OMIM:614376
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Confusion, Elevated circulating creatinine concentration, Hypocalcemia, Abscess,... ORPHA:36234
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Lymphopenia, Irritability ORPHA:391307
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Hyperuricemia OMIM:300322
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Confusion, Elevated circulating creatinin... ORPHA:99826
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Splenomegaly, ... OMIM:602450
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Pancreatic hypoplasia, Elevated circulating creatinine conc... OMIM:137920
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Hyperinsulinemia, Increased blood urea nitrogen, R... ORPHA:230
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Lymphopenia, Cryptorchidism, Anemia, Hypothyroidism, Co... OMIM:616541
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism... OMIM:158350
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Pure red cell aplasia, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Neut... OMIM:613179
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Depression, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary am... OMIM:157640
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Emotional lability OMIM:223900
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... ORPHA:443811
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Erythroid hypoplasia, ... OMIM:612541
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus ORPHA:439232
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration OMIM:266900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, T lymphocytopenia, Impaired lymphoc... ORPHA:35078
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... OMIM:618935
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentration, Pancreatic ... ORPHA:730
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ... ORPHA:411634
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Confusion, Elevated circulating creatinine concentration, Leukocytosis, Thromb... ORPHA:340
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... OMIM:102700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Cushing Disease
Memory impairment, Depression, Increased circulating cortisol level, Pituitary corticotropic cell... ORPHA:96253
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukoc... ORPHA:99829
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Sialadeni... ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia OMIM:617591
Steinert Myotonic Dystrophy
Mental deterioration, Hyperinsulinemia, Decreased fertility, Emotional lability, Cognitive impair... ORPHA:273
Autoimmune Lymphoproliferative Syndrome
Thyroid adenoma, Lymphopenia, Hypersplenism, Thyroid carcinoma, Decreased proportion of CD4-posit... ORPHA:3261
Cardiogenic Shock
Confusion, Elevated circulating creatinine concentration ORPHA:97292
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Cognitive impairment ORPHA:935
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Emotional la... ORPHA:99889
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism ORPHA:3063
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Elevated circ... OMIM:248250
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocr... ORPHA:91500
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534

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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