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Gene: Nuggc MGI:2685446

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Gene Summary

Name:
nuclear GTPase, germinal center associated
Synonyms:
Gm600,  LOC239151,  SLIP-GC

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
enlarged heart Nuggcem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Nuggcem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Nuggcem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Nuggcem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Nuggcem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skeletal muscle morphology Nuggcem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Nuggcem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Nuggcem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Nuggcem1(IMPC)Ccpcz HOM Early adult 2.70×10-05

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

15 Images

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Human diseases caused by Nuggc 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 Nuggc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Cardiomyopath... OMIM:300280
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Overlapping fingers, Femoral bowing, Ventricular ... OMIM:617022
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Infantile Sialic Acid Storage Disease
Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Metaphyseal irregularity OMIM:269920
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepato... OMIM:256550
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly OMIM:614096
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Thymus hyperplasia, Arachnodactyly, Typ... OMIM:619036
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonad... OMIM:235200
Cantu Syndrome
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... OMIM:239850
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Abnormal thumb morphology, Mitral valve ... ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... OMIM:212140
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Tendon rupture, C... ORPHA:85451
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Ventricular septal de... OMIM:616897
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Portal hypertension, Splenomegaly, Cardiomegaly, Hepatomeg... ORPHA:465508
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Mulibrey Nanism
Single transverse palmar crease, Cardiomegaly, Thickened cortex of long bones, Pericardial constr... OMIM:253250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Bi... OMIM:306955
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Short fourth metatarsal, Clinodactyly of the 5th finger, Cryptorc... OMIM:618143
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Mitral valve prolapse, Bicuspi... OMIM:245600
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hepatic steatosis, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepato... ORPHA:42
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... ORPHA:268
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Overlapping fingers, Cardiomegaly, Left ventricu... ORPHA:79330
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly,... ORPHA:158687
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn... OMIM:601005
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Thin metatarsal cortices, Slender long ... ORPHA:2463
Refsum Disease, Classic
Cardiomegaly, Short fourth metatarsal, Limb muscle weakness, Cardiomyopathy OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Exercise-induced rhabd... OMIM:201475
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Talipes equinovarus, Carpal bone hypop... OMIM:252500
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Hypertrophic cardiomyopathy, Abnormal heart va... ORPHA:1517
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, K... OMIM:608836
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia OMIM:268800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Beck-Fahrner Syndrome
Cardiomegaly, Hip dysplasia, Facial hypotonia, Ventricular septal defect OMIM:618798
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly OMIM:617713
Glycogen Storage Disease Ii
Firm muscles, Limb muscle weakness, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Incre... OMIM:232300
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Ventricular se... ORPHA:3472
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Finger joint hypermobility, Ventricular s... ORPHA:363705
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Glandular hypospadias, Cardiomegaly, Talipes equinovarus, Limb hypertonia, Short femur OMIM:620306
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly, Decreased muscle mass ORPHA:349
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Skeletal muscle atrophy, Parotitis, Microcytic anemia, Cam... OMIM:256040
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice, Hepatom... ORPHA:57777
Fucosidosis
Macroglossia, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Flexion contractu... OMIM:230000
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... ORPHA:3384
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Rhabdomyolysis, V... OMIM:614921
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Arthrogry... OMIM:608013
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Diastasis recti, Crypto... OMIM:130650
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt... OMIM:618278
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increas... OMIM:620376
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Congenital contracture, Cardiomegaly, Abnormal cardiac septum m... ORPHA:97297
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Adenoidi... ORPHA:581
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ventricular hypertrophy, Hepato... ORPHA:308552
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ... OMIM:620371
Ogden Syndrome
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Torticoll... OMIM:300855
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Myopathy, C... OMIM:261740
Proteus Syndrome
Finger syndactyly, Decreased muscle mass, Myofibrillar myopathy, Abnormal metacarpal morphology, ... ORPHA:744
Abetalipoproteinemia
Hepatic fibrosis, Acanthocytosis, Reticulocytosis, Myopathy, Hepatic steatosis, Cardiomegaly, Hep... ORPHA:14
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Expanded metatarsal... OMIM:182250
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ... ORPHA:116
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal myocardium morph... ORPHA:228308
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen... ORPHA:980
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ven... ORPHA:365
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j... ORPHA:51
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... ORPHA:1677
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect, Polycystic ovaries ORPHA:137675
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Williams Syndrome
Genu valgum, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries... ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, Arachnodactyly ORPHA:91387
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Abnormal hip joint morphology, Pancreatic calcification, Cardiomegaly, A... ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280

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 Nuggc

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 Nuggc.

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

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MGI Allele Allele Type Produced
Nuggctm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nuggcem1(IMPC)Ccpcz Exon Deletion Mice
Nuggctm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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