banner
Genes Phenotypes Help, News, Blog

Gene: Pebp1 MGI:1344408

Log in to follow

Gene Summary

Name:
phosphatidylethanolamine binding protein 1
Synonyms:
RKIP,  Pbp1,  Pebp1,  Pbpr,  Raf-1 inhibitor protein

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased eosinophil cell number Pebp1em1(IMPC)Tcp HOM Late adult 5.94×10-05
abnormal ovary morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00
abnormal gallbladder morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00
small kidney Pebp1em1(IMPC)Tcp HOM Late adult 0.00
decreased exploration in new environment Pebp1em1(IMPC)Tcp HOM Late adult 5.69×10-07
abnormal epididymis morphology Pebp1em1(IMPC)Tcp HOM Early adult 0.00
small spleen Pebp1em1(IMPC)Tcp HOM Late adult 0.00
abnormal seminal vesicle morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00
decreased bone mineral density Pebp1em1(IMPC)Tcp HOM Early adult 3.41×10-05
abnormal liver morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00
enlarged lymph nodes Pebp1em1(IMPC)Tcp HOM Late adult 0.00
abnormal skin morphology Pebp1em1(IMPC)Tcp HOM Early adult 0.00
abnormal heart morphology Pebp1em1(IMPC)Tcp HOM Late adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Gross Pathology and Tissue Collection

Images

11 Images

View images
Histopathology

Images

28 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

29 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Histopathology

Images

3 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
Combined SHIRPA and Dysmorphology

Images

4 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

View images

Human diseases caused by Pebp1 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 Pebp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Musk, Inability To Smell
Anosmia OMIM:254150
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Aural Atresia, Congenital
Hyposmia OMIM:607842
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Beta-Thalassemia
Irritability, Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia... ORPHA:848
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia... OMIM:235700
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis OMIM:300752
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Cogniti... ORPHA:846
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Hyperbiliverdinemia
Decreased liver function, Green urine, Cholestasis, Cholelithiasis OMIM:614156
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas... OMIM:266200
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell ORPHA:1135
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Abnormality of the sense of smell OMIM:146110
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, ... ORPHA:231222
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro... OMIM:616217
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Bifid nose, Anosmia OMIM:614838
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Microcytic anemia, Cholelithiasis ORPHA:79278
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hypogonadotropic Hypogonadism 27 Without Anosmia
Anosmia OMIM:619755
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Depressed nasal bridge, Anosmia, Short nasal septum OMIM:302950
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia OMIM:602079
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hepatic failure OMIM:177000
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Depression, Biliary tra... ORPHA:77259
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia OMIM:612702
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia OMIM:610628
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Memory imp... ORPHA:3166
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Pancreatic Colipase Deficiency
Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Sp... OMIM:602450
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Jaundice, Hematuria, Cholelithiasis, Reticulocytosis, Reduced ery... OMIM:232800
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Tetragametic Chimerism
Clitoral hypertrophy, Perineal hypospadias, Ovotestis, Abnormal cellular immune system morphology... ORPHA:199310
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Abnormality of the sense of smell OMIM:229070
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Anosmia OMIM:244200
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatic failure, Abnorma... OMIM:614886
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... ORPHA:206484
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Meckel Syndrome, Type 6
Abnormal internal genitalia, Renal cyst, Bile duct proliferation, Cystic liver disease, Absent ga... OMIM:612284
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia OMIM:243000
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Anosmia OMIM:614880
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, Cho... OMIM:620646
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia OMIM:618841
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia OMIM:614897
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, Normochromic anemia, Macro... OMIM:615512
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Anosmia, Choanal atresia OMIM:147950
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Pericardial effusion, Thrombocy... OMIM:618775
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal lymph no... ORPHA:54251
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Precocious puberty, Hydronephrosis, Abnormal heart morphology, Tetralogy of Fallot,... ORPHA:96092
Pentalogy Of Cantrell
Hypospadias, Abnormal pericardium morphology, Tetralogy of Fallot, Absent gallbladder, Atrial sep... ORPHA:1335
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Multicystic kidney dyspl... ORPHA:3032
Bardet-Biedl Syndrome 19
Hyposmia OMIM:615996
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic... OMIM:601346
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Distal Duplication 5Q
Dextrocardia, Hypospadias, Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the g... ORPHA:96097
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Wide nasal bridge, Anosmia OMIM:210745
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Female hypogonadism, Neph... OMIM:240300
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Low frustration tolerance, Decreased testicular size, Cryptorchidism, Micropenis OMIM:300534
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification ORPHA:314473
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Micronodular cirrhosis, Bicuspid aortic va... OMIM:618955
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multicystic kidney dysplasia, Cholestasis, Biliary ... OMIM:267010
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Ventricular se... OMIM:601186
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Huntington Disease
Abnormality of the sense of smell ORPHA:399
Solitary Median Maxillary Central Incisor
Anosmia, Choanal atresia, Midnasal stenosis, Abnormal nasopharynx morphology, Pyriform aperture s... OMIM:147250
Generalized Pseudohypoaldosteronism Type 1
Recurrent tonsillitis, Cholelithiasis ORPHA:171876
Metachromatic Leukodystrophy
Urinary incontinence, Emotional lability, Hemobilia, Dementia, Neoplasm of the gallbladder, Abnor... ORPHA:512
Marcus-Gunn Syndrome
Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Anosmia ORPHA:1295
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Depression, Acute promyelocyti... ORPHA:77293
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia OMIM:616030
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Gaucher Disease
Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Depression, Abnormal he... ORPHA:355
Lathosterolosis
Bilobate gallbladder, Anisopoikilocytosis, Ambiguous genitalia, male, Intrahepatic cholestasis, E... OMIM:607330
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Hypogonadism, Cholelithiasis OMIM:619273
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re... OMIM:263700
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Mirage Syndrome
Anemia, Hypospadias, Microphallus, Decreased testicular size, Hypergonadotropic hypogonadism, Hyp... OMIM:617053
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia OMIM:614841
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Ureteral duplication, Transposition of the great arteries, Anterio... ORPHA:2255
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Bardet-Biedl Syndrome 17
Hyposmia, Anosmia OMIM:615994
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Kleine-Levin Syndrome
Parosmia ORPHA:33543
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia OMIM:614837
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia ORPHA:2316
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Grfoma
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Anosmia OMIM:308700
22Q11.2 Deletion Syndrome
Splenomegaly, Multiple renal cysts, Tricuspid atresia, Hypospadias, Depression, Polycystic kidney... ORPHA:567
Ovarian Fibrothecoma
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis, Gonadal ... ORPHA:314478
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Kufor-Rakeb Syndrome
Hyposmia, Anosmia OMIM:606693
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Exocrine pancreatic ... OMIM:618268
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri... OMIM:600001
Polyendocrine-Polyneuropathy Syndrome
Abnormality of the sense of smell OMIM:616113
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Hypospadias, Male pseudohermaphroditism, Abnormal mesentery morph... ORPHA:2075
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia OMIM:616488
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Atrial septal defect,... ORPHA:464738
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Short attention span, Precocious puberty, Hepatosplenomegaly, Chole... OMIM:301066
Refsum Disease, Classic
Anosmia OMIM:266500
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell OMIM:228300
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Anosmia OMIM:601152
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Truncus arteriosus, Hypop... OMIM:188400
Trisomy 8P
Annular pancreas, Abnormal left ventricle morphology, Dysplastic aortic valve, Nephrocalcinosis, ... ORPHA:264450
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... OMIM:300755
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Renal hypoplasia, Glob... OMIM:614377
Kallmann Syndrome With Spastic Paraplegia
Anosmia OMIM:308750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Ventricular septal defect, Hydronephrosis, Thrombocytopenia, Absent gallblad... ORPHA:163979
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Anosmia, Chronic rhinitis OMIM:244400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aortic valve calcifica... ORPHA:2072
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A... ORPHA:2795
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Asplenia OMIM:602361
Craniofacioskeletal Syndrome
Hypospadias, Ventricular septal defect, Hydronephrosis, Absent gallbladder, Atrial septal defect,... OMIM:300712
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Wide nose, Abnormality of the sense of smell ORPHA:284160
Cerebrotendinous Xanthomatosis
Cholelithiasis, Dementia OMIM:213700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancre... ORPHA:83617
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Biliary hyperplasia, Cognitive impairment, Splenomegaly, Oliguria, ... ORPHA:731
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Ambiguous genital... ORPHA:3376
Stormorken Syndrome
Hematuria, Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Refsum Disease
Anosmia ORPHA:773
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Vacterl/Vater Association
Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardia... ORPHA:887
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Anemia, Enlarged polycystic ovaries, Abnormality of the ureter, B... ORPHA:2869
Cerebrotendinous Xanthomatosis
Progressive psychomotor deterioration, Cholelithiasis, Depression, Short attention span, Cognitiv... ORPHA:909
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Cholestasis, Portal h... ORPHA:84081
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Micropenis, Complete a... OMIM:617925
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Campomelic Dysplasia
Depressed nasal bridge, Abnormality of the sense of smell ORPHA:140
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Progressive psychomotor deterioration, Memory impairment, Depression, Emoti... ORPHA:309271
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Abnormal cardiac septum morpho... ORPHA:97297
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hyposmia, Absent nares, Single naris, Anosmia ORPHA:2250
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Attention deficit hyperactivity disorder, Biliary atresia ORPHA:565899
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Alkaptonuria
Prostatitis, Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral v... ORPHA:56
Septo-Optic Dysplasia Spectrum
Anosmia ORPHA:3157
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P... ORPHA:3109
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Williams Syndrome
Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol... ORPHA:904
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst, Bile duct proliferation OMIM:611134
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc... ORPHA:562639
Kallmann Syndrome
Hyposmia, Anosmia ORPHA:478
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Total anosmia ORPHA:2326
Tetrasomy 9P
Jaundice, Dextrocardia, Biliary atresia, Patent foramen ovale, Oligozoospermia, Abnormal mitral v... ORPHA:3310
Steinfeld Syndrome
Absent gallbladder, Abnormal heart morphology OMIM:184705
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Trisomy 10P
Absent gallbladder, Abnormal heart morphology, Multiple renal cysts, Rectovaginal fistula ORPHA:171929
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Gorlin Syndrome
Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Joubert Syndrome 6
Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation OMIM:610688
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn... OMIM:175200
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ... OMIM:618329
Holoprosencephaly
Hyposmia, Anteverted nares, Anosmia, Choanal atresia, Depressed nasal tip, Depressed nasal ridge,... ORPHA:2162
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Moebius Syndrome
Abnormality of the sense of smell ORPHA:570
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Biliary tract abnormality, Hypogonadism, Lef... OMIM:209900
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ... ORPHA:100086
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Hypospadias, Urogenital sinus anomaly, Bifid scrotum, Abnormal ren... ORPHA:96176
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
8P11.2 Deletion Syndrome
Anosmia, Depressed nasal bridge ORPHA:251066
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Hypospadias, Unilateral renal agenesis, ... OMIM:137920
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Anosmia OMIM:619718
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hepatic arteriovenous malformation, Hematuria, Anemia, Cholelithiasis, Nephrolithiasis... ORPHA:774
Superficial Siderosis
Partial anosmia, Anosmia ORPHA:247245
Hereditary Late-Onset Parkinson Disease
Hyposmia ORPHA:411602
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea... OMIM:618500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Tetralogy of Fallot ORPHA:3186
Zttk Syndrome
Polyuria, Unilateral renal agenesis, Absent gallbladder, Atrial septal defect, Ventricular septal... OMIM:617140
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Hypospadias, Ventricular septal defect, Clitoral hypo... OMIM:261540
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Primum atrial septal defect, Biliary atresia OMIM:615272
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulati... OMIM:619525
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia OMIM:609136
Fucosidosis
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
Bosma Arhinia Microphthalmia Syndrome
Aplasia of the nose, Anosmia, Choanal atresia OMIM:603457
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Renal insufficiency, Renal cyst, Bile duct proliferation, Polycystic liver disease, Nep... OMIM:208500
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Renal cyst, B... OMIM:261515
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Meningioma
Abnormality of the sense of smell ORPHA:2495
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia OMIM:618653
Occipital Horn Syndrome
Abnormality of the sense of smell ORPHA:198
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
3-Methylglutaconic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration, H... OMIM:203700
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl... OMIM:249000
Leopard Syndrome 1
Hyposmia, Depressed nasal ridge OMIM:151100
Amoebiasis Due To Free-Living Amoebae
Hyposmia ORPHA:68
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Nephrolithiasis ORPHA:722
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Bardet-Biedl Syndrome
Rhinitis, Prominent nasal bridge, Depressed nasal bridge, Abnormality of the sense of smell ORPHA:110
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Ventricular septal defect, Hypop... ORPHA:436252
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Abnormal ovarian morphology, Hypospadias, Unilater... ORPHA:95699
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Abnormal heart morphology, Absent gallbladder, Atrial septal defect, H... ORPHA:500150
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Bicuspid aortic valve, Cirrhosis, Atrial septal defect, Elevated circu... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Bicuspid aortic valve, Cirrhosis, Atrial septal defect, Elevated circu... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Bicuspid aortic valve, Cirrhosis, Atrial septal defect, Elevated circu... ORPHA:99228
Monosomy X
Cholestatic liver disease, Bicuspid aortic valve, Cirrhosis, Atrial septal defect, Elevated circu... ORPHA:99226
Wilson Disease
Hyposmia OMIM:277900
Charge Syndrome
Anosmia, Depressed nasal bridge, Choanal atresia ORPHA:138
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ane... OMIM:613658
Lacrimoauriculodentodigital Syndrome
Anosmia, Choanal atresia ORPHA:2363
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Abnormality of the gallbladder, Atrioventricular canal defect, Hypospadias,... ORPHA:818
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Hypospadias, Abnormal heart valve morphology, Atrial septal defec... ORPHA:280
Floating-Harbor Syndrome
Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Glandular hypospadias, Epididym... OMIM:136140
Charge Syndrome
Anosmia, Choanal atresia OMIM:214800
Neurofibroma
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183
Von Hippel-Lindau Disease
Epididymal cyst, Papillary cystadenoma of the epididymis ORPHA:892
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism ORPHA:2044

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 Pebp1

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 Pebp1.

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

Title Journal IMPC Allele PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Pebp1em1(IMPC)Tcp PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Pebp1em1(IMPC)Tcp PMC8163790

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pebp1em1(IMPC)Tcp Exon Deletion Mice, Tissue
Pebp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter