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Gene: Pibf1 MGI:1261910

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Gene Summary

Name:
progesterone immunomodulatory binding factor 1
Synonyms:
4933439E17Rik,  1700017E21Rik,  4933438D16Rik,  4930513H15Rik,  D14Ertd581e

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
abnormal neural tube morphology Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Pibf1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
embryonic growth retardation Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal sleep behavior Pibf1tm1.1(KOMP)Vlcg HET   Early adult 6.46×10-05
abnormal heart morphology Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo turning Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Pibf1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
increased heart weight Pibf1tm1.1(KOMP)Vlcg HET Early adult 1.82×10-06
increased circulating bilirubin level Pibf1tm1.1(KOMP)Vlcg HET Early adult 4.40×10-05
abnormal embryo size Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal heart looping Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube closure Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone marrow N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 100% (2 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 50% (1 of 2)
Tail N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Sleep Wake

Wake state (bmp file)

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Section

46 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Gross Morphology Embryo E9.5

Images

4 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Pibf1 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.

The table below shows human diseases associated to Pibf1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Encephalocele ORPHA:475
Joubert Syndrome 33
Splenomegaly OMIM:617767

The table below shows human diseases predicted to be associated to Pibf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomegaly, Conjugat... OMIM:620010
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... OMIM:619868
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... OMIM:616278
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio... ORPHA:247598
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:269920
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... ORPHA:766
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Secundum atrial septal defect, Elevated circulating S-adenosyl-L-homocysteine... OMIM:614300
Harderoporphyria
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... OMIM:618892
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Elevated hepatic ... OMIM:616860
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... OMIM:618528
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Increased total bilirubin ORPHA:90037
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegal... ORPHA:158057
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia OMIM:619170
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Congenital Bile Acid Synthesis Defect Type 2
Hepatomegaly, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concent... ORPHA:79303
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... OMIM:613280
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Unconjugated hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level OMIM:266200
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:607765
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia, Double outlet right... OMIM:614886
Cholestasis, Progressive Familial Intrahepatic, 8
Increased serum bile acid concentration, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbili... OMIM:619662
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Double outlet right ventricle,... ORPHA:1667
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Conjugated hyperbilirubinemia, Right ventricular hypertrophy, Ventricular septal de... OMIM:613404
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,... OMIM:608836
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptog... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:294
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly ORPHA:64743
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hepatos... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Conjugated hyperbilirubine... OMIM:208085
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:224120
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Elevated circulating alpha-fetop... OMIM:251880
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Hyperbilirubinemia ORPHA:822
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased total bilirubin, Increased circulating ferritin concentrat... ORPHA:3202
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Patent foramen ovale ORPHA:293939
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Conjugated hyperbil... OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Glycogen Storage Disease Xii
Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase... OMIM:611881
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly ORPHA:288
Rh Deficiency Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Narcolepsy 3
Narcolepsy OMIM:609039
Cystic Echinococcosis
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology ORPHA:400
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Hepatomegaly OMIM:259720
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Hepatomegaly, Conjug... ORPHA:567983
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:39812
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:608885
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Narcolepsy 1
Narcolepsy OMIM:161400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614866
Fumarase Deficiency
Perimembranous ventricular septal defect, Hyperbilirubinemia OMIM:606812
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal heart morphology, Hyperbilirubinemia, Hypertrophic cardiomyopathy ORPHA:464321
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Narcolepsy 7
Narcolepsy OMIM:614250
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Ogden Syndrome
Secundum atrial septal defect, Hyperbilirubinemia, Patent foramen ovale, Ventricular septal defec... OMIM:300855
Reynolds Syndrome
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Calcinosis OMIM:613471
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Unconjugated hyperbiliru... OMIM:618278
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Dilatation of the ventricular cavity, Hyperbilirubi... OMIM:619991
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Hypercholesterolemia, He... ORPHA:186
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Ventricular septal defect ORPHA:163979
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Increased circulating copper con... OMIM:277900
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Caroli Syndrome
Hepatomegaly, Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Isolated Biliary Atresia
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Caroli Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:53035
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Tetralogy of Fallot, Mitral stenosis, Patent foramen ovale, Ventricu... ORPHA:163956
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Left ventricular hypertrophy, Atrial sept... OMIM:613610
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Fructose Intolerance, Hereditary
Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Hepatomegaly, Bicarbonaturia OMIM:229600
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia ORPHA:168577
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Hyperbilirubinemia OMIM:557000
Hardikar Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Patent foramen ovale, Ventricular septal de... OMIM:301068
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Unbalanced atrioventricular canal defect, Secundum atrial septal defect, Increas... OMIM:619534
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Elevated circulating C-reactive protein concentra... OMIM:620376
Degcags Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Patent foramen ovale, Ventricular septal defect, Dysplast... OMIM:619488
Neurooculorenal Syndrome
Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral valve prolapse, Dextroc... OMIM:620305
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Hyperbilirubinemia, Ventricular septal defect OMIM:619475
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Senior-Boichis Syndrome
Hepatosplenomegaly, Increased total bilirubin ORPHA:84081
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Muscular ventricular septal defect, Hyperbilirubinemia, Patent foramen ovale... OMIM:210710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia, Right ventricular hypertrophy, Atrial septal defect, Patent fora... OMIM:620186
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Splenomegaly, Reduced haptoglobin level, Unconjugat... ORPHA:79277
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Pancreatic hyperplasia, Elevat... ORPHA:99829
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Atrial septal defect OMIM:300896
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Semilobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect ORPHA:93924
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Splenomegaly, Hypocalcemia, Ventricular septal de... OMIM:243800
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Schinzel-Giedion Syndrome
Abnormal heart morphology, Neural tube defect, Umbilical hernia ORPHA:798
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Narcolepsy, Hyperlipidemia ORPHA:293987
Niemann-Pick Disease Type C
Hepatomegaly, Hepatosplenomegaly, Narcolepsy, Splenomegaly ORPHA:646
African Trypanosomiasis
Narcolepsy, Hepatosplenomegaly, Splenomegaly, Myocarditis, Hepatomegaly, Pericarditis ORPHA:3385
Joubert Syndrome
Hydrocephalus, Situs inversus totalis, Encephalocele ORPHA:475
Joubert Syndrome 33
Splenomegaly OMIM:617767

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 Pibf1

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 Pibf1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A ciliopathy complex builds distal appendages to initiate ciliogenesis. The Journal of cell biology (July 2021) Pibf1tm1.1(KOMP)Vlcg PMC8276316

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pibf1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Pibf1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice

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