Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
nascent polypeptide-associated complex alpha polypeptide
Synonyms:
skNAC,  LOC380777

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Naca 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 Naca by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Osteoporosis
Osteoporosis OMIM:166710
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Short stature, Flexion contracture, Dilated cardiomyopathy, Ragged-red muscle fibers, Left ventri... OMIM:252011
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Congestive heart failure, Intrauterine growth retardation, Hypertro... OMIM:615440
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Feingold Syndrome 2
Postnatal growth retardation, Ventricular septal defect, Short stature OMIM:614326
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Pleural effusio... OMIM:614702
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Hypercholanemia, Familial 1
Rickets OMIM:607748
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Flexion contracture, Hypertension, Left ... OMIM:616733
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... OMIM:619167
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C... ORPHA:60041
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Diastasis recti, Polyhydramnios, Small for gestational age, Postnatal ... ORPHA:254534
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Sudden cardiac de... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... ORPHA:1041
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Obesity, Abnormal heart morphology ORPHA:254525
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:600081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... ORPHA:93160
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Growth dela... ORPHA:2414
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous... ORPHA:555874
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Rickets, Osteomalacia OMIM:613388
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density ORPHA:157215
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:277440
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia OMIM:307800
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Large for gestational age,... OMIM:239850
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, S... ORPHA:26793
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Cystinosis
Rickets ORPHA:213
Dent Disease
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... OMIM:619313
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss ORPHA:411703
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Aicardi-Goutieres Syndrome 9
Pericarditis, Failure to thrive, Portal hypertension, Edema, Pericardial effusion, Weight loss, H... OMIM:619487
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... ORPHA:562
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Growth delay, Pulmonary arterial hypertension, Gingival bleedi... ORPHA:77259
Congenital Enterovirus Infection
Abnormal bleeding, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops feta... ORPHA:292
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... ORPHA:89936
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Weight loss, Growth delay, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Increased susceptibility to fractures, Reduced b... ORPHA:2909
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pe... ORPHA:199241
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism, Synostosis involving bones... ORPHA:221016
Distal Renal Tubular Acidosis
Increased susceptibility to fractures, Rickets, Osteomalacia, Reduced bone mineral density ORPHA:18
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism ORPHA:221008
Gaucher Disease Type 3
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... ORPHA:77261
Cardiac-Urogenital Syndrome
Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca... OMIM:618280
Heart Block, Congenital
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... OMIM:234700
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... ORPHA:198
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex OMIM:613658
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Wilson Disease
Osteoarthritis, Osteoporosis, Osteomalacia, Joint hypermobility OMIM:277900
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... OMIM:309000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Joint hyperflexibility, Arthritis ORPHA:534
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Failure to thrive in infancy, Polyhydramnios,... ORPHA:51608
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia OMIM:619381

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 Naca

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 Naca.

There are 4 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) Nacadtm1(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Nacadtm1(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Nacadtm1(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Nacadtm1(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Nacatm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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