Gene Summary

Name:
Sin3A associated protein
Synonyms:
2610304F09Rik

IMPC Data Collections

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
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.

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

Anti-nuclear antibody assay

Images

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

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
phenotypes
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
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis OMIM:185500
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi... OMIM:132900
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia ORPHA:329249
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect OMIM:614432
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:212090
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus... ORPHA:1457
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C... OMIM:614823
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Leptin Receptor Deficiency
Aggressive behavior, Polyphagia, Abnormal eating behavior OMIM:614963
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia ORPHA:71529
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Huntington Disease
Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcohol use, Aggressive behavior,... ORPHA:399
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Arterial stenosis, Carotid artery calcification, Renal artery stenosis, C... OMIM:208000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Inappropriate laughter, Hyperactivity ORPHA:411515
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral valve morphology, Coronary ar... ORPHA:1192
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia ORPHA:171829
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness OMIM:620439
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Graves Disease
Polyphagia, Hyperactivity OMIM:275000
Takayasu Arteritis
Vasculitis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Arterial stenosis, Abno... ORPHA:3287
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Agitation ORPHA:276556
Body Mass Index Quantitative Trait Locus 19
Polyphagia OMIM:617885
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Agitation ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Agitation ORPHA:276580
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums OMIM:300804
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Agitation ORPHA:324575
Sneddon Syndrome
Arterial stenosis, Intracranial hemorrhage ORPHA:820
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Temple Syndrome
Polyphagia ORPHA:254516
Cebalid Syndrome
Polyphagia OMIM:618774
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypoplastic left heart, Aortic valve calcification, Thoracic aorta calcifi... ORPHA:402075
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Phace Association
Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurysm, Anomalous br... OMIM:606519
Grange Syndrome
Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis OMIM:602531
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Pediatric-Onset Graves Disease
Polydipsia, Splenomegaly, Polyphagia, Hyperactivity, Neutropenia in presence of anti-neutropil an... ORPHA:525731
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Stroke, Cerebral hemorrhage, Lacun... ORPHA:136
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Hypotonia-Cystinuria Syndrome
Polyphagia OMIM:606407
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Man1B1-Cdg
Polyphagia ORPHA:397941
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Angelman Syndrome
Self-injurious behavior, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Aggressive ... ORPHA:72
Wagro Syndrome
Compulsive behaviors, Polyphagia, Aggressive behavior, Agitation OMIM:612469
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia OMIM:609734
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Insulinoma
Polyphagia ORPHA:97279
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis OMIM:209010
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Cardiomyopathy OMIM:226100
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Episodic hemolytic anemia ORPHA:251004
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Mitral valve prolapse, Medial calcification of medium-siz... OMIM:177850
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Aggressive behavior, Self-mutilation ORPHA:251028
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Dysbetalipoproteinemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Type IV atherosclerotic... ORPHA:412
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small cerebral ar... OMIM:600142
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Obsessive-compulsive trait, Polyphagi... ORPHA:177901
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Hypertrophic cardiomyopathy, Art... ORPHA:3342
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Polyphagia, Skin-picking, Compulsive behaviors, Impulsivity ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Polyphagia, Skin-picking ORPHA:98754
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Abnormal cerebral vascular morphology, Atherosclerosis, Arterial sten... ORPHA:758
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Polyphagia, Skin-picking ORPHA:398079
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Homozygous Familial Hypercholesterolemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Abnormal internal carot... ORPHA:391665
Gangliocytoma
Polyphagia ORPHA:251937
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Aggressive behavior, Polyphagia, Hyperactivity, Collectionism, Motor ste... ORPHA:96121
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Attention deficit hyperactivity ... ORPHA:404448
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Atrial sep... ORPHA:2637
Prader-Willi Syndrome
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder OMIM:176270
Weaver Syndrome
Polyphagia OMIM:277590
Helsmoortel-Van Der Aa Syndrome
Bruxism, Polyphagia, Attention deficit hyperactivity disorder, Dysphagia, Hyperactivity, Compulsi... OMIM:615873
Prader-Willi Syndrome
Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Tangier Disease
Left ventricular hypertrophy, Carotid artery stenosis, Coronary artery stenosis, Accelerated athe... ORPHA:31150
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse OMIM:618000
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Hair-pulling, Polyphagia, Attention deficit hyperacti... OMIM:620330
Craniopharyngioma
Polyphagia ORPHA:54595
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Polyphagia, Aggressive behavior, Compulsive behaviors ORPHA:293987
Pseudohypoparathyroidism Type 1C
Polyphagia ORPHA:79444
1P36 Deletion Syndrome
Self-injurious behavior, Abnormality of the spleen, Polyphagia, Dysphagia, Motor stereotypy ORPHA:1606
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Coronary artery stenosis OMIM:615812
Pseudohypoparathyroidism Type 1A
Polyphagia ORPHA:79443
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia, Elevated hemoglobin A1c, Splenomegaly OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Splenomegaly OMIM:608594
Menkes Disease
Arterial stenosis, Venous insufficiency, Vascular dilatation, Intracranial hemorrhage, Abnormal c... ORPHA:565
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Mitral valve prolapse, Carotid artery stenosis, V... ORPHA:536532
Cutis Marmorata Telangiectatica Congenita
Arterial stenosis, Arteriovenous malformation, Patent ductus arteriosus ORPHA:1556
Familial Thrombocytosis
Peripheral arterial stenosis, Transient ischemic attack ORPHA:71493
Chromosome 1P36 Deletion Syndrome, Distal
Oppositional defiant disorder, Self-mutilation, Aggressive behavior, Polyphagia, Dysphagia OMIM:607872
Sitosterolemia 1
Carotid artery stenosis, Coronary artery atherosclerosis OMIM:210250
Mucopolysaccharidosis Type 2
Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Williams Syndrome
Peripheral pulmonary artery stenosis, Abnormal cerebral vascular morphology, Hypertrophic cardiom... ORPHA:904
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal tr... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal tr... ORPHA:217093
Gaisböck Syndrome
Peripheral arterial stenosis, Stroke, Coronary artery atherosclerosis ORPHA:90041
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Abnormal cerebral vascular morphology, Mitral ... ORPHA:79474
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Hyperoxaluria, Primary, Type I
Peripheral arterial stenosis OMIM:259900
Neurofibromatosis Type 1
Arterial stenosis ORPHA:636
Alström Syndrome
Polyphagia, Hepatosplenomegaly, Splenomegaly ORPHA:64

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 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