Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal sleep behavior Pibf1tm1.1(KOMP)Vlcg HET   Early adult 6.46×10-05
embryonic lethality prior to tooth bud stage Pibf1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
abnormal neural tube closure 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
embryonic growth retardation Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube morphology 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
increased heart weight Pibf1tm1.1(KOMP)Vlcg HET Early adult 8.78×10-07
abnormal embryo turning Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal lens morphology Pibf1tm1.1(KOMP)Vlcg HET   Early adult 4.25×10-05
increased circulating bilirubin level Pibf1tm1.1(KOMP)Vlcg HET Early adult 4.40×10-05

Download data as:  TSV  XLS

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

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
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 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

Gross Morphology Embryo E9.5

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Sleep Wake

Wake state (bmp file)

13 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

46 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Slit Lamp

2 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

8 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, Hydrocephalus, Encephalocele ORPHA:475
Joubert Syndrome 33
OMIM:617767

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Rotor Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased serum bi... OMIM:620010
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
Hyperbilirubinemia, Splenomegaly OMIM:179700
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Ethanolaminosis
Cardiomegaly OMIM:227150
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Increased total iron binding capacity, Increased ... OMIM:616278
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration OMIM:243300
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Hepatomegaly, Splenomegaly OMIM:214900
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly ORPHA:2924
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hepatomegaly, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly ORPHA:890
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Hypermethioninemia, Cataract, Abnormal circulating arginine concentration, Abnormal... ORPHA:247598
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:619232
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatomegaly OMIM:618528
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... ORPHA:766
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatomegaly, Splenome... OMIM:618892
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Con... OMIM:616860
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia OMIM:214950
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly OMIM:605479
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Hepatomegaly ORPHA:234
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:607765
Narcolepsy 3
Narcolepsy OMIM:609039
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concent... ORPHA:79303
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, A... OMIM:617713
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:601847
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated ... OMIM:608836
Hypermanganesemia With Dystonia 1
Increased total iron binding capacity, Hypermanganesemia, Hepatomegaly, Unconjugated hyperbilirub... OMIM:613280
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Congenital Bile Acid Synthesis Defect Type 3
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:79302
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... OMIM:267700
Narcolepsy 7
Narcolepsy OMIM:614250
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly OMIM:211600
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Splenomegaly OMIM:266200
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... OMIM:614886
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Conjugated hyperbilirubinemia, Hepatomegaly, Right ventricular hypertr... OMIM:613404
Wolcott-Rallison Syndrome
Double outlet right ventricle, Hepatomegaly, Hyperbilirubinemia, Atrial septal defect, Hyperammon... ORPHA:1667
Narcolepsy 1
Narcolepsy OMIM:161400
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Splenomegaly OMIM:109270
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Short stature, Anencephaly, Tetralogy of Fallot, Ventricular se... ORPHA:1908
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinem... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypercholesterolemia, In... OMIM:619662
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529799
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron ORPHA:98870
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly ORPHA:64743
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperb... OMIM:208085
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly ORPHA:288
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Abetalipoproteinemia
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirub... ORPHA:14
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Splenomegaly, Abnormal blood potassium concentratio... ORPHA:3202
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95716
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... OMIM:603553
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Hereditary Spherocytosis
Restrictive cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:224120
Pyruvate Carboxylase Deficiency
Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertau... ORPHA:3008
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Cataract, Zonular cataract ORPHA:168577
Glycogen Storage Disease Xii
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine kinase concentratio... OMIM:611881
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia, Sple... OMIM:300908
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:600649
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Mydriasis OMIM:259720
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hepatomegaly, Hyperuricemia ORPHA:348
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Patent foramen ovale ORPHA:293939
Cystic Echinococcosis
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology ORPHA:400
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Rh Deficiency Syndrome
Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Wilson Disease
Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, High ... OMIM:277900
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Lathosterolosis
Hyperbilirubinemia, Hepatosplenomegaly, Opacification of the corneal stroma, Cataract, Abnormal c... OMIM:607330
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Reynolds Syndrome
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:613471
Graft Versus Host Disease
Hepatosplenomegaly, Hyperbilirubinemia ORPHA:39812
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjug... ORPHA:567983
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, P... ORPHA:163956
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... OMIM:300257
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Caroli Disease
Conjunctival icterus, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly ORPHA:53035
Caroli Syndrome
Conjunctival icterus, Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia ORPHA:480520
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Cataract ORPHA:314404
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Abnormal heart morphology ORPHA:464321
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Punctate keratitis, Hyperbilirubinemia OMIM:557000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Ventricular hypertrophy, Cardi... OMIM:618278
Ogden Syndrome
Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Hyperbilirubinemia, E... OMIM:300855
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hepatomegaly, Atrial septal defect, H... OMIM:619991
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Hypocalcemia, Atrial septal defect, Hyperbilirubinemia ORPHA:163979
Cranioectodermal Dysplasia 2
Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertroph... OMIM:613610
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Hepatocellular Carcinoma
Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia ORPHA:88673
Fructose Intolerance, Hereditary
Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia OMIM:229600
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly ORPHA:30391
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Hyperbilirubinemia, Ventricular septal defect, Iris coloboma, Cataract, Ju... OMIM:619475
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Secundum atrial septal defect, Hepatomegaly, Primum... OMIM:619534
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level ORPHA:90674
Hardikar Syndrome
Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Ventric... OMIM:301068
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Degcags Syndrome
Hepatomegaly, Atrial septal defect, Dysplastic pulmonary valve, Hyperbilirubinemia, Pulmonic sten... OMIM:619488
Congenital Erythropoietic Porphyria
Corneal ulceration, Splenomegaly, Increased erythrocyte protoporphyrin concentration, Keratoconju... ORPHA:79277
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele ORPHA:268810
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin level OMIM:218700
Senior-Boichis Syndrome
Increased total bilirubin, Hepatosplenomegaly ORPHA:84081
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Yellow Fever
Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, Elevated circulating ... ORPHA:99829
African Trypanosomiasis
Keratitis, Narcolepsy, Hepatomegaly, Splenomegaly, Iritis, Hepatosplenomegaly, Myocarditis, Peric... ORPHA:3385
Niemann-Pick Disease Type C
Narcolepsy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly ORPHA:646
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Hyperlipidemia, Hyponatremia ORPHA:293987
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Decreased serum iron, Conjunctival icterus, Unconjugated hyperbili... ORPHA:447
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Atrial septal defect OMIM:300896
Semilobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Short stature, Neural tube defect, Growth delay, Abnormal heart morphology ORPHA:93924
Schinzel-Giedion Syndrome
Umbilical hernia, Neural tube defect, Abnormal heart morphology ORPHA:798
Joubert Syndrome
Situs inversus totalis, Hydrocephalus, Encephalocele ORPHA:475
Joubert Syndrome 33
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.

No publications found that use IMPC mice or data for Pibf1.

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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

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

Subscribe to newsletter