Not currently registered for phenotyping at IMPC

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

Gene Summary

nascent polypeptide-associated complex alpha polypeptide
skNAC,  LOC380777

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Osteoporosis OMIM:166710
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... 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
Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath... OMIM:252011
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth ret... OMIM:615440
Eiken Syndrome
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... ORPHA:79106
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... OMIM:600785
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Hypophosphatasia, Adult
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Rickets, Pathologic fra... OMIM:146300
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Feingold Syndrome 2
Ventricular septal defect, Short stature, Postnatal growth retardation OMIM:614326
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi... ORPHA:83451
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Pericardial effusion, Oligohydramnios, Pleural effusion, Failure to th... OMIM:614702
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
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
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Hypertension, Oligo... OMIM:616733
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Small for gestational age, Bicuspid aortic valve, Hypertension, ... OMIM:613355
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Diaphragmatic eventration, Noncompaction cardiomyopathy, Atrial septal defe... OMIM:610198
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Ventricular septal defect, Small for gestational age, Large for ... ORPHA:254534
Hydrops Fetalis
Polyhydramnios, Lymphedema, Small for gestational age, Pericardial effusion, Nonimmune hydrops fe... ORPHA:1041
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Hypophospha... OMIM:300554
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Abnormal heart morphology, Postnatal growth retardation, Intrauterine growth retardation ORPHA:254525
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... OMIM:600081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Coarse metaphyseal trabecularization, Osteolysis, Abnormal bon... ORPHA:93160
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Pulmonary edema, Postnatal growth retardation, Supraventricular ar... ORPHA:75249
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... ORPHA:555874
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets,... OMIM:241530
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... ORPHA:2414
Pericardial effusion, Ascites OMIM:256150
Fanconi Renotubular Syndrome 2
Rickets, Recurrent fractures, Osteopenia, Osteomalacia OMIM:613388
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Reduced bone mineral density ORPHA:157215
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Osteopenia OMIM:211600
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Dent Disease 1
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... 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
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... OMIM:264700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis OMIM:560000
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... OMIM:277440
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Sparse bone trabeculae, Ri... ORPHA:289157
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biventricular h... OMIM:261740
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... ORPHA:289176
Dermatosparaxis Ehlers-Danlos Syndrome
Osteomalacia, Rickets, Osteopenia, Joint hyperflexibility, Joint stiffness, Osteoporosis ORPHA:1901
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets OMIM:612089
Infantile Systemic Hyalinosis
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... ORPHA:2176
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Cantu Syndrome
Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effusion, Bicuspid aortic valve... OMIM:239850
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Polyhydramnios, Persistent fetal circulation, Ventricular septal... ORPHA:363705
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... OMIM:300967
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Small for gestational age, Pericardial effusion,... ORPHA:26793
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Dent Disease
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... ORPHA:1652
Rickets ORPHA:213
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Fibrous Dysplasia Of Bone
Thin bony cortex, Osteomalacia, Rickets, Osteolysis, Cortical irregularity, Abnormal bone structu... ORPHA:249
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... ORPHA:216694
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Weight loss ORPHA:411703
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Fanconi-Bickel Syndrome
Rickets, Osteopenia ORPHA:2088
Aicardi-Goutieres Syndrome 9
Weight loss, Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Fail... OMIM:619487
Tropical Endomyocardial Fibrosis
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ve... ORPHA:75565
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteoporosis, Osteomalacia ORPHA:309031
X-Linked Hypophosphatemia
Vertebral hyperostosis, Enthesitis, Arthritis, Generalized osteosclerosis, Limitation of joint mo... ORPHA:89936
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Abnormal bleeding, Pleural ef... ORPHA:292
Mccune-Albright Syndrome
Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Aneurysmal bone cyst, Polyostoti... ORPHA:562
Gaucher Disease Type 1
Pulmonary arterial hypertension, Pedal edema, Pericardial effusion, Bruising susceptibility, Dela... ORPHA:77259
Hypophosphatemic Rickets
Osteomalacia, Enthesitis, Rickets, Craniofacial osteosclerosis, Hyperostosis, Joint stiffness, Fi... ORPHA:437
Primary Intestinal Lymphangiectasia
Weight loss, Pericardial effusion, Pleural effusion, Edema, Growth delay, Ascites, Generalized edema ORPHA:90362
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Neu-Laxova Syndrome
Flexion contracture, Osteomalacia, Arthrogryposis multiplex congenita, Rickets, Osteopenia, Osteo... ORPHA:2671
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Increased susceptibility to fractures, Osteopenia, Reduced b... ORPHA:2909
Celiac Disease, Susceptibility To, 1
Rickets, Osteoporosis OMIM:212750
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... ORPHA:199241
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Finger symphalangism, Osteopenia, Synostosis involving bones... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Finger symphalangism, Osteopenia ORPHA:221008
Distal Renal Tubular Acidosis
Rickets, Increased susceptibility to fractures, Osteomalacia, Reduced bone mineral density ORPHA:18
Visceral Steatosis, Congenital
Abnormal bleeding, Neonatal death, Myocardial steatosis OMIM:228100
Gaucher Disease Type 3
Pulmonary arterial hypertension, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morp... ORPHA:77261
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... OMIM:234700
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... OMIM:618280
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Occipital Horn Syndrome
Osteomalacia, Synostosis of joints, Rickets, Osteolysis, Osteopenia, Joint hyperflexibility, Oste... ORPHA:198
Rajab Interstitial Lung Disease With Brain Calcifications 1
Thin bony cortex, Joint laxity, Rickets, Osteopenia, Reduced bone mineral density OMIM:613658
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Primary Fanconi Renotubular Syndrome
Increased susceptibility to fractures, Hypophosphatemic rickets, Osteomalacia ORPHA:3337
Wilson Disease
Joint hypermobility, Osteoporosis, Osteoarthritis, Osteomalacia OMIM:277900
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... ORPHA:391665
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Joint contracture of the hand, Osteomalacia, Joint hypermobility, Ricket... OMIM:309000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteomalacia, Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis ORPHA:2636
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Congestive heart failure, Dilated ca... ORPHA:73224
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Ventricular hypertrophy, Polyhydramnios, Retinal hemorrhage, Hyd... ORPHA:51608
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets OMIM:219800
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Arthritis, Joint hyperflexibility, Joint stiffness ORPHA:534
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia OMIM:619381


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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