Gene Summary

Name:
formyl peptide receptor 3
Synonyms:
Fprl1,  Fpr-rs1,  LXA4-R,  Lxa4r

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
abnormal colon morphology Fpr3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased exploration in new environment Fpr3tm1b(EUCOMM)Hmgu HOM Early adult 1.76×10-05
abnormal vitreous body morphology Fpr3tm1b(EUCOMM)Hmgu HOM   Early adult 4.36×10-05
increased hematocrit Fpr3tm1b(EUCOMM)Hmgu HOM Early adult 9.95×10-07
increased hemoglobin content Fpr3tm1b(EUCOMM)Hmgu HOM Early adult 6.84×10-06
increased circulating cholesterol level Fpr3tm1b(EUCOMM)Hmgu HOM Early adult 7.37×10-05
abnormal ileum morphology Fpr3tm1b(EUCOMM)Hmgu HOM Early adult 0.00
persistence of hyaloid vascular system Fpr3tm1b(EUCOMM)Hmgu HOM   Early adult 2.39×10-05

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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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Fpr3 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 Fpr3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy OMIM:615863
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Glycogen Storage Disease Vi
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Anxiety, Hypercholesterolemia, Increased... ORPHA:90041
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Abetalipoproteinemia
Abetalipoproteinemia, Fat malabsorption, Retinal degeneration, Acanthocytosis OMIM:200100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Cholesteryl Ester Storage Disease
Esophageal varix, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Abnormality of the small intestine, Anemia, Malabsorption ORPHA:100025
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Thalassemia
Microcytic anemia, Cognitive impairment, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglo... ORPHA:846
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Pancreatic Lipase Deficiency
Fat malabsorption, Hypolipidemia, Steatorrhea OMIM:614338
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Increased hematocrit, Zollinger-Ellison syndrome, Iron deficiency anemia, H... ORPHA:100076
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Temple Syndrome
High palate, Bifid uvula, Hypercholesterolemia, Hypertriglyceridemia, Cleft palate OMIM:616222
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Sple... OMIM:616828
Eosinophilic Gastroenteritis
Hematochezia, Eosinophilia, Abnormality of the gastrointestinal tract, Leukocytosis, Elevated cir... ORPHA:2070
Refractory Celiac Disease
Microcytic anemia, Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal ... ORPHA:398063
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatosplenomegaly, Hypercholesterolemia, Splenomegaly, Esophageal varix, Anemia, Dec... OMIM:278000
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Esophagitis, Du... OMIM:619079
Smith-Magenis Syndrome
Hypercholesterolemia, Velopharyngeal insufficiency, Retinal detachment, Self-mutilation, Hypertri... OMIM:182290
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hypertriglyceridemia OMIM:612526
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... OMIM:605814
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Increased fecal bile acid, Steatorrhea OMIM:613291
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Irritability, Abnormal ... ORPHA:848
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia, Irritability, Recurrent infection of the gastrointestin... ORPHA:263501
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Dysphagia, Abnormal la... ORPHA:2198
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cognitive impairment, Hypercholesterolemia, Dementia, Mental deterioration, Hypoalbuminemia OMIM:208920
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abnormal blood ion concentration, Aganglionic megacolon, Abnormalit... ORPHA:95427
Congenital Tufting Enteropathy
Abnormal small intestinal mucosa morphology, Anal atresia, Irritability, Malabsorption, Villous a... ORPHA:92050
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Abnormal intestine morphology, Villous atrophy OMIM:614162
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Steatorrhea ORPHA:309108
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Morgagni-Stewart-Morel Syndrome
Suicidal ideation, Cognitive impairment, Memory impairment, Hypercholesterolemia, Hyperuricemia ORPHA:77296
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... OMIM:616050
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Congenital Short Bowel Syndrome
Intestinal malrotation, Decreased intestinal transit time, Abnormal peristalsis, Intestinal atres... OMIM:615237
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology, Protein-losing enteropathy OMIM:613502
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Intestinal pseudo-obstruction, Thrombocytopenia, Increa... OMIM:300048
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholestero... ORPHA:247598
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
High palate, Hypercholesterolemia ORPHA:254531
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Hyperglycinemia, Protein-losing enteropathy OMIM:619063
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Gastrointestinal carcinoma, Hypokalemia, Hypocalcemia, Hamartomatous polyposis, Ane... OMIM:175500
Diarrhea 9
Villous atrophy OMIM:618168
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Hypercholesterolemia, Psychomotor deterioration, Increased... ORPHA:79237
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
High palate, Bifid uvula, Hypercholesterolemia, Pyloric stenosis, Cleft palate ORPHA:96184
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Alg6-Cdg
Retinal degeneration, Macroglossia, Hypoalbuminemia, Protein-losing enteropathy, Decreased LDL ch... ORPHA:79320
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Neutropenia, Anemia, Increased mean corpuscular volume, Pe... OMIM:618849
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... OMIM:207750
Smith-Magenis Syndrome
Hypercholesterolemia, Self-injurious behavior, Gastroesophageal reflux, Retinal detachment, Anxie... ORPHA:819
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Esophageal varix, Elevated circulating creatine kinase concen... ORPHA:370
Hypercholanemia, Familial 1
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul... ORPHA:103910
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Retinal detachment, Colonic diverticula OMIM:223330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Esophageal varix, Anemia, Elevated circulating creatine kinas... ORPHA:264580
Diverticulosis, Small-Intestinal
Ulcerative colitis, Jejunoileal diverticula, Duodenal diverticula, Jejunal diverticula OMIM:223320
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Leukocytosis, Memory impairment, Hypercholesterolemia, Progressive neurolog... ORPHA:90065
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Nephrotic Syndrome, Type 11
High palate, Cleft palate, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Hypoalbuminemia, Thrombocytopenia, Protein-losing enteropathy OMIM:608104
Lysosomal Acid Lipase Deficiency
Cognitive impairment, Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Psychomotor deter... ORPHA:275761
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Increased serum bile acid concentration, Hypercholesterolemia, Conjug... OMIM:619662
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Colon cancer, Intussusception, Rectal prolapse, Anemia, Duodenal adeno... OMIM:174900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, H... ORPHA:79240
Chylomicron Retention Disease
Hypocholesterolemia, Fat malabsorption, Acanthocytosis, Steatorrhea ORPHA:71
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis, Elevated circulating creatine kinase con... ORPHA:96180
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Chorioretinal coloboma, Meckel diverticulum OMIM:300864
Vascular Hyalinosis
Hematochezia, Malabsorption, Protein-losing enteropathy OMIM:277175
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Hypercholesterolemia, Elevated circulating creatine kinase concentrat... ORPHA:64753
Laron Syndrome
Hypercholesterolemia ORPHA:633
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Schistocytosis, Hypokalemia, Colonic stenosis, Leukocytosis, Elevated cir... ORPHA:90038
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Cognitive impairment, Hyperlipidemia, Hypercholesterolemia, Chronic neutropenia, Abnormal myeloid... ORPHA:79259
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Decreased proportion of CD3-positive T cells, Incre... ORPHA:90362
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Cognitive impairment, Leukopenia, Hepatosplenomegal... ORPHA:470
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypercholesterolemia, Hypertriglyceridemia, Macroglossia ORPHA:528
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Gastroesophageal reflux, C... ORPHA:263665
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Malabsorption, Villous atrophy OMIM:600955
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy OMIM:602579
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Cleft palate OMIM:257910
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Iron deficiency anemia, Abnormal circulating eicosanoid concentration, Decreased c... OMIM:618372
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Galloway-Mowat Syndrome 7
High palate, Cleft palate, Hypercholesterolemia OMIM:618348
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Abnormality of iron ho... ORPHA:231222
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Hypercholesterolemia, Hypertriglyceridemia, Increased ci... ORPHA:2457
Diamond-Blackfan Anemia 6
Bifid uvula, Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, C... OMIM:612561
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Gastroesophageal reflux, Aganglionic megacolon, Macroglossia, Anemia, Vo... ORPHA:847
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, ... OMIM:304790
Megalocornea-Mental Retardation Syndrome
High palate, Bifid uvula, Dysphagia, Hypercholesterolemia OMIM:249310
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, Splenomega... ORPHA:231226
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intussusception, High, narrow palate, Rectal prolapse,... ORPHA:79076
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Abnormalit... ORPHA:231214
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Splenomegaly, Hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Scleroderma
Abnormal stomach morphology, Cognitive impairment, Abnormality of the gastrointestinal tract, Hyp... ORPHA:801
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Alg1-Cdg
Hypoalbuminemia, Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Optic atrophy, Villous atrophy, Iris coloboma OMIM:601110
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, High palate, HbH hemoglobin ORPHA:98791
Megalocornea-Intellectual Disability Syndrome
High palate, Hypercholesterolemia ORPHA:2479
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption, Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Low Phospholipid-Associated Cholelithiasis
Hepatocellular carcinoma, Neoplasm of the liver, Hypercholesterolemia ORPHA:69663
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Gastroesophageal reflux, Persistence of hemoglobin F OMIM:619769
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Barrett esophagus, Hypoperistalsis OMIM:611376
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... ORPHA:412
Shwachman-Diamond Syndrome 1
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Mpi-Cdg
Hypoalbuminemia, Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Netherton Syndrome
Abnormal intestine morphology, Hypereosinophilia, Intestinal atresia, Villous atrophy OMIM:256500
Thymoma
Neoplasm of the gastrointestinal tract, Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemi... ORPHA:99867
Acquired Methemoglobinemia
Anxiety, Methemoglobinemia ORPHA:464453
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Immunodeficiency 47
Leukopenia, Normocytic anemia, Accessory spleen, Hypercholesterolemia, Splenomegaly, Thrombocytop... OMIM:300972
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Trichohepatoenteric Syndrome 2
Decreased serum iron, Colitis, Villous atrophy OMIM:614602
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbi... ORPHA:79303
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... OMIM:557000
Microcolon
Microcolon OMIM:251400
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Colitis, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytope... OMIM:614700
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, HbH hemoglobin, Macroglossia, Protruding tongue, Reduced alpha/beta synthesis ratio,... OMIM:141750
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypercholesterolemia, Self-injurious behavior, Gastroesophageal reflux... ORPHA:534
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hyperbilirubinemia OMIM:214950
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Osteootohepatoenteric Syndrome
Hypokalemia, Increased serum bile acid concentration, Anemia, Increased intestinal transit time, ... OMIM:619377
Visceral Myopathy 1
Megaduodenum, Aganglionic megacolon, Microcolon, Dysphagia, Intestinal pseudo-obstruction OMIM:155310
Abetalipoproteinemia
Fat malabsorption, Decreased LDL cholesterol concentration, Abnormality of retinal pigmentation, ... ORPHA:14
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Colitis, Malabsorption, Villous atrophy OMIM:209920
Systemic Sclerosis
Abnormal stomach morphology, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, ... ORPHA:90291
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Macr... ORPHA:90674
Microvillus Inclusion Disease
Abnormality of small intestinal villus morphology, Villous atrophy ORPHA:2290
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating creatinine concentration, Abnormality of retinal pigmenta... ORPHA:91500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Juvenile Polyposis Syndrome
Hematochezia, Neoplasm of the gastrointestinal tract, Hypoproteinemia, Gastrointestinal hemorrhag... ORPHA:2929
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Cleft palate ORPHA:2714
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Shwachman-Diamond Syndrome
Pancytopenia, Fat malabsorption, Abnormality of the gastrointestinal tract, Leukopenia, Normocyti... ORPHA:811
Blackfan-Diamond Anemia
High palate, Leukopenia, Cleft soft palate, Thrombocytosis, Erythroid hypoplasia, Acute myeloid l... ORPHA:124
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Splenomegaly, Macroglossia, Protein-losing enteropathy OMIM:618440
Harrod Syndrome
High palate, Malrotation of small bowel, Aganglionic megacolon, High, narrow palate, Pyloric sten... OMIM:601095
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Papilledema OMIM:619471
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Hyponatremia, Hypocalcemia, Protein-losing enteropathy, Hypertriglyceridemia, Hypoa... OMIM:618183
Steinert Myotonic Dystrophy
Cognitive impairment, Colon cancer, Abnormality of the tongue muscle, Anxiety, Oral-pharyngeal dy... ORPHA:273
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Hypoperistalsis, Abnormality of the gastrointestinal tract ORPHA:2241
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Gastroesophageal reflux, HbH hemoglobin, Macroglossia, Protruding tongue, Reduced alpha/beta synt... OMIM:301040
Lead Poisoning
Cognitive impairment, Memory impairment, Imbalanced hemoglobin synthesis, Anemia, Increased LDL c... ORPHA:330015
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypoproteinemia, Hypocalcemia, Splenomegaly, Protein-losing enteropathy, Cleft palate OMIM:235255
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Dementia, Intussusception, Neoplasm of... ORPHA:512
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Fg Syndrome Type 1
High palate, Malrotation of colon, Gastroesophageal reflux, Optic nerve hypoplasia, Anal atresia,... ORPHA:93932
Alagille Syndrome 1
Pigmentary retinopathy, Hypercholesterolemia, Hypertriglyceridemia, Hepatocellular carcinoma OMIM:118450
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Elevated circulating C-reactiv... OMIM:619573
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Whim Syndrome
Parotitis, Abnormality of the small intestine, Neutropenia, Abnormality of neutrophil morphology,... ORPHA:51636
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Aganglionic megacolon, Ileus, Splenomegaly ORPHA:163746
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia, Villous atrophy, Abnormal circulatin... ORPHA:567983
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Protein-losing ente... ORPHA:1655
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Morphological abnormality of the gastrointestinal tract, Meckel diverticulum ORPHA:2847
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, High palate, Abnormal duodenum morphology, Intestinal malrotation, Retinal detachm... OMIM:601776
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cognitive impairment, Fat malabsorption, Gastrointestinal hemorrhage, Hepatosplen... ORPHA:731
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Trichohepatoenteric Syndrome 1
Bifid uvula, Cognitive impairment, Thrombocytosis, Hypermethioninemia, Abnormality of iron homeos... OMIM:222470
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Dysphagia, Memory impairment ORPHA:637
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Hypoalbuminemia, Protein-losing enteropathy, Narrow... OMIM:235510
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Dysphagia, Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Tarp Syndrome
Tongue nodules, Abnormal duodenum morphology, Glossoptosis, Cleft palate, Optic atrophy, Extramed... ORPHA:2886
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Aggressive behav... OMIM:309000
Pierson Syndrome
Hypoproteinemia, Retinal hemorrhage, Retinal detachment, Remnants of the hyaloid vascular system,... OMIM:609049
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Enterocolitis, Neut... ORPHA:391487
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Syndromic Diarrhea
Hepatoblastoma, Thrombocytosis, Colitis, Splenomegaly, Abnormality of iron homeostasis, Villous a... ORPHA:84064
Dextrocardia
Intestinal malrotation, Abnormality of the spleen, Meckel diverticulum ORPHA:1666
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia OMIM:619351
Zygomycosis
Hematochezia, Gastrointestinal hemorrhage, Colitis, Retinal detachment, Splenic abscess, Colon pe... ORPHA:73263
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Polysplenia, Hypoplasia of the small intestine OMIM:200995
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, T lymphocytopenia, Colitis, Decreased proportion of naive T cells, Splenomegaly,... OMIM:619381
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration ORPHA:391665
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Tracheoesop... ORPHA:141127
Isolated Biliary Atresia
Xanthelasma, Fat malabsorption, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Meckel diver... OMIM:265380
Bannayan-Riley-Ruvalcaba Syndrome
Hamartomatous polyposis, Intestinal polyposis, Narrow palate, Abnormal large intestine morphology ORPHA:109
Storm Syndrome
Fat malabsorption OMIM:185069
Neuroocular Syndrome
Anxiety, Remnants of the hyaloid vascular system, Short uvula, Submucous cleft hard palate, Lens ... OMIM:619539
Microphthalmia, Syndromic 2
Bifid uvula, Retinal detachment, Remnants of the hyaloid vascular system, Submucous cleft hard pa... OMIM:300166
Norrie Disease
Self-injurious behavior, Anxiety, Retinal detachment, Remnants of the hyaloid vascular system, Ir... ORPHA:649
Heart Defects, Congenital, And Other Congenital Anomalies
Microcolon, Intestinal malrotation, Colon perforation OMIM:600001
Fraser Syndrome 1
Abnormality of the anus, Abnormality of the small intestine, Cleft palate OMIM:219000
Restrictive Dermopathy
Submucous cleft hard palate, Microcolon ORPHA:1662

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 Fpr3

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 Fpr3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Chemosensory Cell-Derived Acetylcholine Drives Tracheal Mucociliary Clearance in Response to Virulence-Associated Formyl Peptides. Immunity (April 2020) Fpr3tm1b(EUCOMM)Hmgu 32294408
Bacterial MgrB peptide activates chemoreceptor Fpr3 in mouse accessory olfactory system and drives avoidance behaviour. Nature communications (October 2019) Fpr3tm1b(EUCOMM)Hmgu PMC6814738

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MGI Allele Allele Type Produced
Fpr3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Fpr3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Fpr3tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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