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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 sleep behavior Pibf1tm1.1(KOMP)Vlcg HET   Early adult 6.46×10-05
embryonic growth retardation Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo turning Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal heart looping Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal heart morphology Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Pibf1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal neural tube closure Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
increased heart weight Pibf1tm1.1(KOMP)Vlcg HET Early adult 1.96×10-06
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
increased circulating bilirubin level Pibf1tm1.1(KOMP)Vlcg HET Early adult 4.40×10-05

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Sleep Wake

Wake state (bmp file)

13 Images

View images
Adult LacZ

LacZ Images Section

46 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 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
Situs inversus totalis, Encephalocele, Hydrocephalus 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
Neonatal hyperbilirubinemia, Unconjugated 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
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia OMIM:179700
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio... OMIM:620010
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
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
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... OMIM:619868
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated 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
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Increased total iron binding capacity, Increased serum bile acid conc... OMIM:616278
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration OMIM:243300
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin ORPHA:890
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly OMIM:214900
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin ORPHA:2924
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:619232
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Spherocytosis, Type 4
Splenomegaly, Hyperbilirubinemia OMIM:612653
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... ORPHA:766
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:269920
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... ORPHA:247598
Harderoporphyria
Splenomegaly, Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatome... OMIM:618892
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:605479
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Spherocytosis, Type 1
Splenomegaly, Hyperbilirubinemia OMIM:182900
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Spherocytosis, Type 2
Splenomegaly, Hyperbilirubinemia OMIM:616649
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:235555
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... OMIM:618528
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Hyperbilirubinemia OMIM:235700
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Increased total bilirubin ORPHA:90037
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly ORPHA:234
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:616689
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:601847
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concent... ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:185000
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:211600
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:619662
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Atrial septal de... ORPHA:1667
Liver Failure, Infantile, Transient
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated circulating long chain fatty acid concentration, Double outlet rig... OMIM:614886
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Hepatomegaly, Ventricular septal defect, Right ventricular hypertr... OMIM:613404
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinem... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... OMIM:608836
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin OMIM:232800
Hepatoportal Sclerosis
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Hereditary Elliptocytosis
Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bil... OMIM:227810
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... OMIM:208085
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... OMIM:603553
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio... ORPHA:3202
Narcolepsy 3
Narcolepsy OMIM:609039
Anemia, Congenital Dyserythropoietic, Type Ia
Splenomegaly, Hepatomegaly, Hyperbilirubinemia OMIM:224120
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Hereditary Spherocytosis
Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia ORPHA:822
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilir... OMIM:300908
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype... ORPHA:3008
Glycogen Storage Disease Xii
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperbilirubinemi... OMIM:611881
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia ORPHA:293939
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Hepatomegaly, Increased circulating very long-chain fatty acid con... OMIM:614887
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia, Hepatomegaly ORPHA:348
Relapsing Fever
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91547
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co... ORPHA:14
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:71275
Cystic Echinococcosis
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology ORPHA:400
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Narcolepsy 1
Narcolepsy OMIM:161400
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia 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
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia OMIM:259720
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly OMIM:608885
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Hyper... ORPHA:567983
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Wilson Disease
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Hypo... OMIM:277900
Narcolepsy 7
Narcolepsy OMIM:614250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Splenomegaly, Elevated ci... OMIM:614866
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Fumarase Deficiency
Perimembranous ventricular septal defect, Hyperbilirubinemia OMIM:606812
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Abnormal heart morphology ORPHA:464321
Isolated Posterior Meningocele
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... OMIM:618278
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Lathosterolosis
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... OMIM:607330
Liver Disease, Severe Congenital
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... OMIM:619991
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Atrial septal defect, Ventricular septal defect, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Caroli Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating alpha-fetoprotein concentration... ORPHA:53035
Reynolds Syndrome
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613471
Caroli Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia ORPHA:480520
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly ORPHA:30391
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Atrial septal defect, Left ventricular hypertroph... OMIM:613610
Fructose Intolerance, Hereditary
Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... ORPHA:163956
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Hyperbilirubinemia OMIM:557000
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Hepatosplenomegaly ORPHA:168577
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Partial anomalous pulmonary venous return,... OMIM:301068
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbilirubin... OMIM:619534
Degcags Syndrome
Hepatomegaly, Ventricular septal defect, Hepatosplenomegaly, Hyperbilirubinemia, Pulmonic stenosi... OMIM:619488
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... ORPHA:90038
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ventricular septal defect, Bicuspid aortic valve, Hyperbilirubinemia OMIM:619475
Neurooculorenal Syndrome
Dextrocardia, Conjugated hyperbilirubinemia, Mitral valve prolapse, Tetralogy of Fallot with pulm... OMIM:620305
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
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Hyperbilirubinemia, Atrial septal ... OMIM:210710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Atrial septal defect, Patent foramen ovale, Unconjugated hyperbilirubinemia, Right ventricular hy... OMIM:620186
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... ORPHA:79277
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Yellow Fever
Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... ORPHA:99829
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Congenital Disorder Of Glycosylation, Type Iim
Atrial septal defect, Neonatal hyperbilirubinemia OMIM:300896
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93924
Johanson-Blizzard Syndrome
Hepatomegaly, Ventricular septal defect, Increased VLDL cholesterol concentration, Conjugated hyp... OMIM:243800
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Narcolepsy, Hyperlipidemia, Hyperkalemia ORPHA:293987
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect, Abnormal heart morphology ORPHA:798
Niemann-Pick Disease Type C
Hepatosplenomegaly, Narcolepsy, Splenomegaly, Hepatomegaly ORPHA:646
African Trypanosomiasis
Hepatomegaly, Pericarditis, Myocarditis, Narcolepsy, Splenomegaly, Hepatosplenomegaly ORPHA:3385
Joubert Syndrome
Situs inversus totalis, Encephalocele, Hydrocephalus 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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