Gene Summary

Name:
progesterone immunomodulatory binding factor 1
Synonyms:
1700017E21Rik,  4933438D16Rik,  4933439E17Rik,  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
increased heart weight Pibf1tm1.1(KOMP)Vlcg HET Early adult 1.97×10-06
increased circulating bilirubin level Pibf1tm1.1(KOMP)Vlcg HET Early adult 4.53×10-05
abnormal heart looping Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal neural tube morphology Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo turning Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal heart morphology Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal auditory brainstem response Pibf1tm1.1(KOMP)Vlcg HET   Early adult 9.80×10-05
abnormal neural tube closure Pibf1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal lens morphology Pibf1tm1.1(KOMP)Vlcg HET   Early adult 9.49×10-05
abnormal embryo size 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
preweaning lethality, complete penetrance Pibf1tm1.1(KOMP)Vlcg HOM   Early adult 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  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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

46 Images

Sleep Wake

Wake state (bmp file)

13 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Gross Morphology Embryo E9.5

Images

4 Images

Combined SHIRPA and Dysmorphology

Images

3 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, Aganglionic megacolon, Iris coloboma 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
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival icterus ORPHA:3111
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly OMIM:179700
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
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Hearing impairment, Unconjugated hyperbilirubinemia ORPHA:79234
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hyperbilirubinemia, Hypertrophic cardiomyopathy, Splenomegaly OMIM:613673
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Ethanolaminosis
Cardiomegaly OMIM:227150
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Hearing impairment, Conjugated hyperbilirubinemia, Increased serum bile acid concen... OMIM:243300
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hyperbilirubinemia, Hypermethioninemia, Pulmonic stenosis, Sensorineural he... OMIM:614300
Malaria
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Hepatomegaly, Splenomegaly, Increased ... OMIM:616278
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly ORPHA:890
Liver Failure, Infantile, Transient
Hepatomegaly, Hyperbilirubinemia OMIM:613070
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Hepatomegaly, Unconjugated hyperbilirubinemia OMIM:210500
Bile Acid Conjugation Defect 1
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:619232
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatomegaly OMIM:618528
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Unco... ORPHA:766
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal hyperbilirubinemia... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Neonatal hyperbilirubinemia... ORPHA:529799
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly OMIM:612653
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Infantile Sialic Acid Storage Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly, Splenomegaly OMIM:269920
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:185000
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Splenomegaly, Hepatome... OMIM:618892
Isolated Polycystic Liver Disease
Increased total bilirubin, Hepatomegaly ORPHA:2924
Autosomal Dominant Spastic Paraplegia Type 29
Hearing impairment, Hyperbilirubinemia ORPHA:101009
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Hepatomegaly, Spleno... OMIM:616860
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Spherocytosis, Type 2
Hyperbilirubinemia, Splenomegaly OMIM:616649
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Hyperbilirubinemia OMIM:214950
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia OMIM:605479
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricular hypertrophy, Eleva... OMIM:617713
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Lipoyltransferase 1 Deficiency
Increased total bilirubin OMIM:616299
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:616689
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly ORPHA:90037
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia ORPHA:234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Decreased plasma total carnitine, Overfolded helix, Enlarged kidney, D... OMIM:608836
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia, Splenomegaly OMIM:235700
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Hepatomegaly, Splenomegaly, Optic atrophy, Optic disc pallor OMIM:259720
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d... OMIM:619170
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Rieger anomaly, Sensorineural hearing impairment, Abnormally... OMIM:109120
Hypermanganesemia With Dystonia 1
Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Hypermangan... OMIM:613280
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Aniridia-Intellectual Disability Syndrome
Aniridia, Ectopia lentis, Cataract, Optic nerve hypoplasia ORPHA:1068
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Double outlet right ventricle, Elevated circulating long chain fatty acid con... OMIM:614886
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Conjugated hyperbilirubinemia, Right ventricular hypertrophy, Ventricular s... OMIM:208085
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Sensorineural hearing impairment, Bilateral sensorineural hearing im... ORPHA:73272
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Hardikar Syndrome
Ventricular septal defect, Hyperbilirubinemia, Hepatomegaly, Hearing impairment, Splenomegaly, Pa... OMIM:612726
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia, Splenomegaly OMIM:109270
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Sensorineural hearing impa... ORPHA:95716
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Bachmann-Bupp Syndrome
Cupped ear, Hyperbilirubinemia, Sensorineural hearing impairment OMIM:619075
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Wolcott-Rallison Syndrome
Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Double outlet right ventric... ORPHA:1667
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, Anenceph... ORPHA:1908
Hereditary Cryohydrocytosis With Reduced Stomatin
Macrotia, Conjugated hyperbilirubinemia, Cataract, Hepatosplenomegaly, Zonular cataract ORPHA:168577
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly ORPHA:288
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Sensorineural hearing impairment OMIM:609727
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL cholesterol concentra... ORPHA:14
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, Neonatal hyperbilirubinemia, Absent antihelix, Microtia ORPHA:293939
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, EEG with spike-wave complexes, EEG with changes in voltage, Hypsarrh... ORPHA:95232
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... ORPHA:3202
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia, Splenomegaly ORPHA:822
Refsum Disease, Classic
Elevated levels of phytanic acid, Cataract, Sensorineural hearing impairment, Cardiomegaly, Cardi... OMIM:266500
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Fumarase Deficiency
Hyperbilirubinemia, Optic atrophy OMIM:606812
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Lathosterolosis
Conductive hearing impairment, Hyperbilirubinemia, Cataract, Opacification of the corneal stroma,... OMIM:607330
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cataract, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Cystic Echinococcosis
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology ORPHA:400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Hypoplastic left heart, Mitral st... OMIM:617660
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Splenomegaly OMIM:300908
Attrv30M Amyloidosis
Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy ORPHA:85447
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hearing impairment, Cardiomegaly OMIM:618838
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:600649
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
X-Linked Intellectual Disability, Nascimento Type
Developmental cataract, Macrotia, Ventricular septal defect, Neonatal hyperbilirubinemia, Hearing... ORPHA:163956
Reynolds Syndrome
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly OMIM:613471
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Splen... ORPHA:567983
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Macrotia, Hepatomegaly, Cataract, Hearing impairment, Absent brain... ORPHA:90321
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Autoimmune Hepatitis
Increased total bilirubin, Splenomegaly ORPHA:2137
Diabetic Embryopathy
Ventricular septal defect, Spinal dysraphism, Tetralogy of Fallot, Hydrocephalus, Transposition o... ORPHA:1926
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect, Hyperbilirubinemia, Posteriorly ro... ORPHA:163979
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase c... OMIM:300257
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Caroli Syndrome
Hepatomegaly, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival icterus ORPHA:480520
Caroli Disease
Hepatomegaly, Conjugated hyperbilirubinemia, Conjunctival icterus, Splenomegaly ORPHA:53035
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Heterochromia iridis, Abnormal autonomic nervous system phy... OMIM:609136
Cranioectodermal Dysplasia 2
Atrial septal defect, Hyperbilirubinemia, Abnormality of the pinna, Hepatomegaly, Left ventricula... OMIM:613610
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hepatomegaly, Hyperuricosuria OMIM:229600
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Orthost... ORPHA:186
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Mend Syndrome
Abnormal heart morphology, Elevated 8-dehydrocholesterol, Cataract, Aortic valve stenosis, Abnorm... ORPHA:401973
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cockayne Syndrome B
Abnormality of the pinna, Hypoplasia of the iris, Cataract, Hepatomegaly, Abnormal auditory evoke... OMIM:133540
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Cockayne Syndrome A
Abnormality of the pinna, Hepatomegaly, Cataract, Abnormal auditory evoked potentials, Sensorineu... OMIM:216400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Abnormal heart morphology, Hypertrophic cardiomyopathy ORPHA:464321
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Opacification of the corneal stroma, Cardiomegaly, Mitr... OMIM:231005
Isolated Biliary Atresia
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hepatomegaly, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Cerebrotendinous Xanthomatosis
Abnormal atrial septum morphology, Abnormal motor evoked potentials, Abnormal auditory evoked pot... ORPHA:909
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Unconjugated hyperbilirubinemia, Reduced hapt... ORPHA:79277
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Trisomy 10P
Low voltage EEG, Macrotia, Abnormal heart morphology, EEG with burst suppression, Posteriorly rot... ORPHA:171929
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia OMIM:210550
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia OMIM:218700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Atrial septal defect, Hypsarrhythmia OMIM:300896
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Opacification of the corneal stroma, Tinnitus, Cardiomegaly ORPHA:79280
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Iniencephaly
Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Myelomeningocele, Hy... ORPHA:63259
Semilobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93924
Schinzel-Giedion Syndrome
Abnormal heart morphology, Umbilical hernia, Neural tube defect ORPHA:798
Joubert Syndrome
Situs inversus totalis, Aganglionic megacolon, Iris coloboma 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.

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

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