Gene Summary

Name:
nuclear cap binding subunit 3
Synonyms:
1200014J11Rik

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 total body fat amount Ncbp3tm1b(EUCOMM)Wtsi HET Early adult 5.47×10-05
enlarged heart Ncbp3tm1b(EUCOMM)Wtsi HET Early adult 0.00
decreased lean body mass Ncbp3tm1b(EUCOMM)Wtsi HET   Early adult 2.04×10-05
preweaning lethality, incomplete penetrance Ncbp3tm1b(EUCOMM)Wtsi HOM   Early adult 0.00

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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote 100% (1 of 1)
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote 100% (1 of 1)
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote 100% (1 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote 100% (1 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote 100% (1 of 1)
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote 100% (1 of 1)

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 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 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%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 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%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 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 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.

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

MicroCT E18.5

Embryo reconstruction

4 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Ncbp3 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 Ncbp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Cardiomyopathy ORPHA:85447
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive OMIM:614096
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia OMIM:613576
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t... ORPHA:860
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Failure to thrive OMIM:269920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Small for ges... OMIM:614702
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Carnitine Deficiency, Systemic Primary
Failure to thrive, Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardi... OMIM:212140
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Large for gestational age, Cardiomega... OMIM:239850
Mulibrey Nanism
Cardiomegaly, Enamel hypoplasia, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Inguinal hernia, Cardiomegaly, Hepatomegaly OMIM:256550
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Cardiomegaly, Distal arthrogryposis ORPHA:42
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Ventricular septal defe... OMIM:620609
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Fucosidosis
Hepatomegaly, Cardiomegaly, Lipoatrophy, Failure to thrive ORPHA:349
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... ORPHA:324410
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture, Small ... OMIM:616897
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Failure to thrive ORPHA:99931
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Large for gestational age, Ventricular se... ORPHA:363705
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary v... ORPHA:3427
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Small for gestational age OMIM:613320
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c... ORPHA:1329
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Splenomegaly, Cardiomegaly, Weight loss, Hepatomegaly ORPHA:465508
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Splenomegaly, Mitral valv... OMIM:602782
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Hepatomegaly, Arthrogrypos... OMIM:608013
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Omphalocele, Ventricular septal defect OMIM:617022
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Eunuchoid habitus, Loss of truncal subcutaneous adipose tissue ORPHA:2463
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia ORPHA:1517
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepat... ORPHA:308552
Developmental And Epileptic Encephalopathy 95
Umbilical hernia, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Hepatomegaly, Arthr... OMIM:618143
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Knee flexion contracture, Cardiomegaly, Hepato... OMIM:608836
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Fucosidosis
Failure to thrive, Splenomegaly, Hernia, Cardiomegaly, Hepatomegaly, Flexion contracture OMIM:230000
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy ORPHA:158687
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Splenomegaly, Inguinal hernia, ... OMIM:252500
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:614921
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Mucopolysaccharidosis Type 3
Umbilical hernia, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morpholog... ORPHA:581
Congenital Tracheomalacia
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car... ORPHA:95430
Proteasome-Associated Autoinflammatory Syndrome 1
Failure to thrive, Camptodactyly of finger, Elbow flexion contracture, Loss of facial adipose tis... OMIM:256040
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Inguinal hernia, Abnormality of connective tissue ORPHA:91387
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Bohring-Opitz Syndrome
Congenital contracture, Cardiomegaly, Severe failure to thrive, Abnormal cardiac septum morpholog... ORPHA:97297
Ogden Syndrome
Secundum atrial septal defect, Umbilical hernia, Inguinal hernia, Patent foramen ovale, Ventricul... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Pat... OMIM:300967
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepat... ORPHA:365
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Umbilical hernia, Ventricular septal defect ORPHA:96191
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Panni... ORPHA:51
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Small for gestational age, Patent foramen ovale, Decreased body weight OMIM:620371
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Failure to thrive, Ventricular septal defect ORPHA:137675
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Omphalocele, Hepatomegaly, Enlarged kidney OMIM:130650
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Failure to thrive ORPHA:14
Beckwith-Wiedemann Syndrome
Visceromegaly, Umbilical hernia, Hypertrophic cardiomyopathy, Obesity, Large for gestational age,... ORPHA:116
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:620376
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Liver Disease, Severe Congenital
Failure to thrive, Umbilical hernia, Dilatation of the ventricular cavity, Splenomegaly, Patent f... OMIM:619991
Williams Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Failure to thrive in infancy,... ORPHA:904
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Severe failure to t... ORPHA:3472
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Decreased body weight, Cardiomegaly, Mitral va... OMIM:182250
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Failure to thrive in infancy, Cardiomegaly, Pericardial effusion, Myocar... ORPHA:51608

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 Ncbp3

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 Ncbp3.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Interferon-λ Receptor Expression: Novel Reporter Mouse Reveals Within- and Cross-Tissue Heterogeneity. Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research (May 2020) Ncbp3tm1a(EUCOMM)Wtsi 32364818
The alternative cap-binding complex is required for antiviral defense in vivo. PLoS pathogens (December 2019) Ncbp3tm1a(EUCOMM)Wtsi PMC6946169

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.

MGI Allele Allele Type Produced
Ncbp3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ncbp3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ncbp3tm331(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ncbp3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ncbp3tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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