banner
Genes Phenotypes Help, News, Blog

Gene: Sh3bp4 MGI:2138297

Log in to follow

Gene Summary

Name:
SH3-domain binding protein 4
Synonyms:
BOG25

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
increased circulating bilirubin level Sh3bp4tm1a(EUCOMM)Wtsi HOM Early adult 6.59×10-06

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
Anti-nuclear antibody assay

Images

4 Images

View images
DSS Histology

Images

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
Eye Morphology

Images Ophthalmoscopy

2 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

View images
Ear epidermis immunophenotyping

Images

9 Images

View images
Legacy Phenotype Associated Images
Sh3bp4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
WT, Male, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
WT, Male, WTSI

View all 106 images

Sh3bp4tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
corneal opacity, HOM, Female, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
abnormal cornea morphology, HOM, Male, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
abnormal snout morphology, head, upturned snout, HOM, Male, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Male, WTSI
Sh3bp4tm1a(EUCOMM)Wtsi
asymmetric snout, abnormal snout morphology, head, HOM, Male, WTSI

Human diseases caused by Sh3bp4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sh3bp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Cysteine Peptiduria
Abnormal circulating cysteine concentration, Abnormal circulating glycine concentration OMIM:219550
Maple Syrup Urine Disease, Mild Variant
Hyperisoleucinemia, Hyperleucinemia OMIM:615135
Sarcosinemia
Hypersarcosinemia OMIM:268900
Schizophrenia 4
Hyperprolinemia OMIM:600850
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Hyperhomocystinemia, Methylmalonic acidemia OMIM:613646
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Malaria
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia OMIM:269920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... ORPHA:158057
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, Increased circulating ferriti... OMIM:616860
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia ORPHA:713
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity OMIM:613280
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Tyrosinosis
Hypertyrosinemia OMIM:276800
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia ORPHA:95716
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia ORPHA:1667
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia OMIM:211600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Reduced haptoglobin level OMIM:266200
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... ORPHA:3008
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... OMIM:608836
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Neonatal hyperbilirubinemia, Abnormal blood potassium concentration, I... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia OMIM:613812
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level OMIM:613673
Fetal Cytomegalovirus Syndrome
Conjugated hyperbilirubinemia ORPHA:294
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia OMIM:607330
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Rh Deficiency Syndrome
Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Glycogen Storage Disease Xii
Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kinase concentration OMIM:611881
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Graft Versus Host Disease
Hyperbilirubinemia ORPHA:39812
Cystic Echinococcosis
Hyperbilirubinemia ORPHA:400
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration ORPHA:90673
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia ORPHA:90674
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci... OMIM:614866
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, De... OMIM:277900
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia ORPHA:464321
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration OMIM:218700
Pearson Marrow-Pancreas Syndrome
Hyperbilirubinemia OMIM:557000
Caroli Disease
Conjugated hyperbilirubinemia ORPHA:53035
Reynolds Syndrome
Hyperbilirubinemia, Calcinosis OMIM:613471
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Isolated Biliary Atresia
Conjugated hyperbilirubinemia ORPHA:30391
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Ogden Syndrome
Hyperbilirubinemia OMIM:300855
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Cranioectodermal Dysplasia 2
Hyperbilirubinemia OMIM:613610
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H... OMIM:619991
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Degcags Syndrome
Hyperbilirubinemia OMIM:619488
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Hardikar Syndrome
Hyperbilirubinemia OMIM:301068
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia OMIM:620376
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Unconjugated hyperbilirubinemia OMIM:620186
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... OMIM:619534
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen... ORPHA:447
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800

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 Sh3bp4

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 Sh3bp4.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Sh3bp4tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Sh3bp4tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sh3bp4tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)