Gene Summary

Sin3A associated protein

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Sap130tm1a(KOMP)Mbp HET Early adult 1.41×10-05
increased food intake Sap130tm1a(KOMP)Mbp HET   Early adult 2.70×10-05

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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.


XRay Images Skull Lateral Orientation

14 Images


XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology


8 Images


XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay


14 Images


XRay Images Forepaw

14 Images


XRay Images Skull Dorso Ventral Orientation

17 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping


12 Images

Legacy Phenotype Associated Images

View all 118 images

Human diseases caused by Sap130 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 Sap130 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Bulimia Nervosa, Susceptibility To
Bulimia OMIM:607499
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis OMIM:185500
Macrosomia Adiposa Congenita
Polyphagia, Eosinophilia OMIM:248100
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Patent ductus arteriosus, Thoracic aortic aneurysm, Descendin... OMIM:132900
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Ventr... ORPHA:3400
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve, Coarctation of aorta OMIM:614823
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Grange Syndrome
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:79094
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia ORPHA:329249
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior OMIM:614962
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Pick Disease Of Brain
Polyphagia OMIM:172700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia ORPHA:71529
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Subvalvular aortic stenosis, Aortic an... OMIM:614980
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Frontotemporal Dementia
Polyphagia OMIM:600274
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Cerebral artery atherosclerosis, Arterial stenosis, Coronary ar... ORPHA:1192
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Obesity Due To Sim1 Deficiency
Polyphagia ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia OMIM:609734
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Arterial Calcification, Generalized, Of Infancy, 1
Arterial stenosis, Coronary artery calcification, Generalized arterial calcification OMIM:208000
Leptin Receptor Deficiency
Polyphagia, Abnormal eating behavior OMIM:614963
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... OMIM:217095
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia OMIM:616521
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Ab... ORPHA:3287
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Patent ductus arteriosus, A... ORPHA:860
Graves Disease, Susceptibility To, 1
Polyphagia OMIM:275000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia ORPHA:411515
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Coarctation of aorta, Hypoplastic left heart, ... ORPHA:402075
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Huntington Disease
Polyphagia, Oral-pharyngeal dysphagia, Choking episodes ORPHA:399
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal c... OMIM:606519
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia ORPHA:276556
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve OMIM:602531
Temple Syndrome
Polyphagia ORPHA:254516
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia ORPHA:276580
Cebalid Syndrome
Polyphagia OMIM:618774
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia ORPHA:324575
Sneddon Syndrome
Arterial stenosis ORPHA:820
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect ORPHA:3405
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Hypotonia-Cystinuria Syndrome
Polyphagia OMIM:606407
Pediatric-Onset Graves Disease
Polydipsia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Polyphagia, Throm... ORPHA:525731
Schaaf-Yang Syndrome
Polyphagia OMIM:615547
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Polyphagia ORPHA:397941
2Q23.1 Microdeletion Syndrome
Polyphagia ORPHA:228402
Trisomy 18P
Polyphagia ORPHA:1715
Cardiac Diverticulum
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis OMIM:209010
Polyphagia ORPHA:97279
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Episodic hemolytic anemia ORPHA:251004
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Cerebral artery atherosclerosis, Abnormal internal carotid artery mor... ORPHA:391665
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Type IV atherosclerotic lesion, Peripheral arterial stenosis, Accelerated atherosclerosis, Aortic... ORPHA:412
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Aortic root aneurysm, Hypertrophic cardio... ORPHA:3342
Luscan-Lumish Syndrome
Polyphagia OMIM:616831
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Arteriosclerosis, Medial calcification of medium-sized ar... OMIM:177850
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arterial stenosis ORPHA:136
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Atherosclerosis, Restrictive cardiomyopathy, Arterial stenosis, ... ORPHA:758
Polyphagia ORPHA:251937
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Angelman Syndrome
Polyphagia, Dysphagia ORPHA:72
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398079
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis OMIM:615812
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Patent ductus arteriosus, Vascular dilatation, Arterial stenosis ORPHA:2637
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Bulimia ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Bulimia ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Bulimia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Bulimia ORPHA:177901
Prader-Willi Syndrome
Polyphagia OMIM:176270
Tangier Disease
Accelerated atherosclerosis, Left ventricular hypertrophy, Coronary artery stenosis, Carotid arte... ORPHA:31150
Prader-Willi-Like Syndrome
Polyphagia, Bulimia ORPHA:398073
7Q11.23 Microduplication Syndrome
Polyphagia ORPHA:96121
Prader-Willi Syndrome
Polyphagia ORPHA:739
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Adnp Syndrome
Polyphagia, Oral-pharyngeal dysphagia ORPHA:404448
Pseudohypoparathyroidism Type 1C
Polyphagia ORPHA:79444
Polyphagia ORPHA:54595
Early-Onset Schizophrenia
Polyphagia ORPHA:96369
Pseudohypoparathyroidism Type 1A
Polyphagia ORPHA:79443
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Splenomegaly OMIM:608594
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Varicose veins, Mitral v... ORPHA:536532
Menkes Disease
Venous insufficiency, Vascular dilatation, Arterial stenosis, Abnormal carotid artery morphology ORPHA:565
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Splenomegaly OMIM:269700
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Arteriovenous malformation, Arterial stenosis ORPHA:1556
1P36 Deletion Syndrome
Polyphagia, Abnormality of the spleen, Dysphagia ORPHA:1606
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Polydipsia ORPHA:293987
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve mo... ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve mo... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve mo... ORPHA:217093
Williams Syndrome
Abnormal endocardium morphology, Overriding aorta, Tetralogy of Fallot, Aortic arch aneurysm, Pat... ORPHA:904
Familial Thrombocytosis
Peripheral arterial stenosis ORPHA:71493
Atypical Werner Syndrome
Premature arteriosclerosis, Prominent superficial veins, Peripheral arterial stenosis, Mitral val... ORPHA:79474
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Dysphagia OMIM:607872
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Arteriovenous fistula, Peripheral arteriovenous fistula, Pulmona... ORPHA:286
Gaisböck Syndrome
Peripheral arterial stenosis, Coronary artery atherosclerosis ORPHA:90041
Hyperoxaluria, Primary, Type I
Peripheral arterial stenosis OMIM:259900
Neurofibromatosis Type 1
Arterial stenosis ORPHA:636
Alström Syndrome
Polyphagia, Hepatosplenomegaly, Splenomegaly ORPHA:64


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 Sap130

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 Sap130.

There are 7 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) Sap130tm1a(KOMP)Mbp PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Sap130tm1a(KOMP)Mbp PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sap130tm1a(KOMP)Mbp PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sap130tm1a(KOMP)Mbp