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Gene: Ap2s1 MGI:2141861

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Gene Summary

Name:
adaptor-related protein complex 2, sigma 1 subunit
Synonyms:
N/A

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
decreased body length Ap2s1em1(IMPC)Tcp HET Early adult 5.24×10-11
abnormal heart morphology Ap2s1em1(IMPC)Tcp HET Early adult 0.00
hydrometra Ap2s1em1(IMPC)Tcp HET Early adult 0.00
enlarged cecum Ap2s1em1(IMPC)Tcp HET Early adult 0.00
abnormal cecum morphology Ap2s1em1(IMPC)Tcp HET Early adult 0.00
enlarged heart Ap2s1em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to tooth bud stage Ap2s1em1(IMPC)Tcp HOM   E12.5 0.00
small superior vagus ganglion Ap2s1em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Ap2s1em1(IMPC)Tcp HOM   E9.5 0.00

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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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Ap2s1 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.

The table below shows human diseases associated to Ap2s1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer OMIM:600740

The table below shows human diseases predicted to be associated to Ap2s1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ... ORPHA:85451
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Attrv30M Amyloidosis
Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Hemochromatosis, Type 1
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg... OMIM:235200
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Cardiomegaly, Splenomegaly OMIM:269920
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Pericardial effusion OMIM:614702
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Mulibrey Nanism
Microglossia, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux ORPHA:3137
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Abnormal atriovent... ORPHA:324410
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly, Necrotizing ent... OMIM:201475
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Gastrointestinal dysmotility, Dysphagia ORPHA:391428
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
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect, Cardiomegaly, O... OMIM:620609
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Ectopic... ORPHA:83628
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis, Hypospadias, Cl... OMIM:616897
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve... ORPHA:363705
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hy... ORPHA:79330
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Histiocytoid cardiomyopathy, Ventr... OMIM:309801
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Cholangiocarcinoma, He... ORPHA:465508
Beck-Fahrner Syndrome
Cardiomegaly, High palate, Ventricular septal defect OMIM:618798
Oeis Complex
Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitalia, female, Ab... OMIM:258040
Fg Syndrome Type 1
Pyloric stenosis, Gastroesophageal reflux, Abnormal large intestine morphology, Cryptorchidism, M... ORPHA:93932
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagi... ORPHA:3109
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Brachial plexus neuropathy, Dysphagia, Right ventricular hypertrophy ORPHA:268
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly, Macroglossia OMIM:268800
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Townes-Brocks Syndrome 2
Bifid uterus, Anal atresia, Rectovaginal fistula, Hypospadias OMIM:617466
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Overriding aorta, High palate, Macroglossia, Narrow palate OMIM:617022
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous sy... OMIM:105210
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Uterus didelphys, Abnormal heart morphology, Septate vagina, Aplasia of the uterus, Vaginal atres... ORPHA:2237
Congenital Tracheomalacia
Gastroesophageal reflux, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defec... ORPHA:95430
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy OMIM:619259
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate ORPHA:2736
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Aplasia of the uterus, Cleft palate, Abnormal cardiac septum morphology ORPHA:3320
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Gastroesophageal reflux, Abnormal large intestine morphol... ORPHA:90291
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly, Hepatomegaly, Cleft... OMIM:614921
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegal... OMIM:261740
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly, High palate, Enlarged kidney OMIM:608836
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cleft palate, Cardiomyopathy ORPHA:158687
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Azoospermia, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, ... OMIM:602782
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Macroglossia ORPHA:308552
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Dysphagia OMIM:608013
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... ORPHA:90793
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Beckwith-Wiedemann Syndrome
Macroglossia, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorch... OMIM:130650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Macroglossia, Cardiomegaly, Cryptorchidism OMIM:618143
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:168558
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Cardiomyopathy, Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Left ventricular noncompaction, Left ventricular no... OMIM:300967
Histiocytoid Cardiomyopathy
Optic atrophy, Polycystic ovaries, Cardiomegaly, Ventricular septal defect, Hepatomegaly, Cleft p... ORPHA:137675
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... ORPHA:289548
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Glandular hypospadias OMIM:620306
Okamoto Syndrome
Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ... ORPHA:2729
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Mucopolysaccharidosis Type 3
Optic atrophy, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, ... ORPHA:581
Exstrophy-Epispadias Complex
Penoscrotal transposition, Anal stenosis, Bifid scrotum, Abnormal heart morphology, Cystocele, Cr... ORPHA:322
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, High palate ORPHA:2463
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Anal atresia, C... OMIM:614083
Popliteal Pterygium Syndrome
Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... OMIM:119500
Glycogen Storage Disease Ii
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly OMIM:232300
Phocomelia, Schinzel Type
High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... ORPHA:2879
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Anal atresia, Aplasia of the vagina OMIM:271520
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Colitis, Epididymitis, C... OMIM:620376
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of... ORPHA:284339
Fucosidosis
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly OMIM:230000
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia, Single ventricle OMIM:619879
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Fat malabsorption, Steatorrhea ORPHA:14
Ogden Syndrome
Narrow palate, Secundum atrial septal defect, Decreased testicular size, Cryptorchidism, Patent f... OMIM:300855
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Intestinal polyposis, Narrow palate, Hamar... ORPHA:109
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Enlarged kidney OMIM:252500
Yunis-Varon Syndrome
High, narrow palate, Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, V... ORPHA:3472
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Bohring-Opitz Syndrome
Cardiomegaly, Optic atrophy, Cleft palate, Abnormal cardiac septum morphology ORPHA:97297
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cryptorchidism, Patent foramen ovale, Cardiomegaly, High palate, Narrow palate OMIM:620371
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventr... OMIM:107480
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Vent... OMIM:274000
Williams Syndrome
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid ao... ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, High, narrow palate ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Macrogloss... ORPHA:365
Beckwith-Wiedemann Syndrome
Macroglossia, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cryptorchidism, Cardiomeg... ORPHA:116
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Tetralogy of Fallot, Intestinal malrotation, Cryptorchidism, Ventricular se... OMIM:135900
Liver Disease, Severe Congenital
Protein-losing enteropathy, Dilatation of the ventricular cavity, Chronic gastritis, Splenomegaly... OMIM:619991
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... ORPHA:90794
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, H... OMIM:614527
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Bifid uterus ORPHA:1521
Limb-Mammary Syndrome
Bifid uvula, Submucous cleft soft palate, Aplasia of the ovary, Aplasia of the uterus, Cleft hard... ORPHA:69085
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Wolf-Hirschhorn Syndrome
Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Cryptorchidism, Ventricu... OMIM:194190
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Micropenis ORPHA:51
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Epididymitis OMIM:256040
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular septal defect, Bi... OMIM:236680
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Neu-Laxova Syndrome 1
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter... OMIM:256520
Pallister-Killian Syndrome
Aortic valve stenosis, Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Hypertr... OMIM:601803
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Mitral valve prolapse, Uterine prolapse, Cervical ins... OMIM:130050
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Uterine rupture, Abnormal heart valve morphology, Gastrointestinal infarctio... ORPHA:286
Loeys-Dietz Syndrome
Bifid uvula, High palate, Uterine rupture ORPHA:60030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Narrow palate, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genital... OMIM:276820
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification ORPHA:51608
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism ORPHA:649
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer OMIM:600740

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 Ap2s1

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 Ap2s1.

No publications found that use IMPC mice or data for Ap2s1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ap2s1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Ap2s1tm454684(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ap2s1em1(IMPC)Tcp Intra-exon deletion Mice, Tissue

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