Gene Summary

adaptor-related protein complex 2, sigma 1 subunit

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


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images

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
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
Matching phenotypes Source
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
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Hy... ORPHA:85451
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Testicular atrophy, Splenome... OMIM:235200
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, High palate, Splenomegaly OMIM:269920
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Male... ORPHA:168563
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614702
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Microglossia, Cardiomegaly OMIM:253250
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, In... OMIM:618280
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux ORPHA:3137
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Mitral valv... ORPHA:324410
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Gastroesophageal reflux, Necrotizing enterocolitis, Hypertrophic cardiomyopathy, Ca... OMIM:201475
Hsd10 Disease, Infantile Type
Optic atrophy, Hypertrophic cardiomyopathy, Dysphagia, Gastrointestinal dysmotility, Cardiomegaly ORPHA:391428
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Long-Olsen-Distelmaier Syndrome
Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Vent... OMIM:620609
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism... OMIM:306955
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Cleft palate, Cardiomegaly, Ventricular septal defect, ... OMIM:616897
Lumbar Syndrome
Hypospadias, Ectopic anus, Bifid scrotum, Anal atresia, Bifid uterus, Ambiguous genitalia, Crypto... ORPHA:83628
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve... ORPHA:363705
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Optic atrophy, Hepatomegaly, External genital hypoplasia, High palate, Absent brainstem auditory ... ORPHA:79330
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat... OMIM:309801
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Testicular atrophy, Splenomegaly, Cholang... ORPHA:465508
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, High palate OMIM:618798
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Fg Syndrome Type 1
Hypospadias, Gastroesophageal reflux, Optic nerve hypoplasia, High palate, Anal atresia, Abnormal... ORPHA:93932
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,... 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
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Cardiomegaly, Macroglossia OMIM:268800
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Townes-Brocks Syndrome 2
Anal atresia, Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Lethal Congenital Contracture Syndrome 10
Narrow palate, High palate, Ventricular septal defect, Cardiomegaly, Overriding aorta, Macroglossia OMIM:617022
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotensi... OMIM:105210
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Uterus didelphys, Cleft palate, Abnormal heart morphology, Vaginal atresia... ORPHA:2237
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology... ORPHA:95430
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, High palate, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal d... ORPHA:96191
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Cardiomegaly 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 uvula, Cleft palate, Cleft soft palate, Bifid uterus ORPHA:2736
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Tetralogy of Fallot, Aplasia of the uterus, Abnormal cardiac septum morphology ORPHA:3320
Systemic Sclerosis
Myocarditis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal... ORPHA:90291
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Bifid uvula, Cleft palate, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal... OMIM:614921
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Hepatomegaly, High palate, Cardiomegaly, Dilated cardiomyopathy OMIM:608836
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cleft palate, Cardiomyopathy ORPHA:158687
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosis, Hepatosplenomegaly,... OMIM:602782
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Macroglossia ORPHA:308552
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema OMIM:146255
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Dysphagia, Cardiomegaly OMIM:608013
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Cryptorchidism, Pancreatic hyperplas... OMIM:130650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Cleft palate, Mitral valve prolapse, Left ventricula... OMIM:245600
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Cryptorchidism, Macroglossia, Hepatomegaly OMIM:618143
Cardiomegaly, Hepatomegaly ORPHA:349
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Cr... OMIM:300967
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Cleft palate, Cardiomegaly, Polycystic ovaries, Ventricular septal d... ORPHA:137675
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Glandular hypospadias OMIM:620306
Okamoto Syndrome
Anal stenosis, Abnormal left ventricle morphology, Gastroesophageal reflux, Primum atrial septal ... ORPHA:2729
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Mucopolysaccharidosis Type 3
Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, ... ORPHA:581
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Anal stenosis, Bifid penis, Abnormality of the gastrointes... 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
Esophageal atresia, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistula, Cleft palate,... OMIM:614083
Popliteal Pterygium Syndrome
Bifid scrotum, Bifid uvula, Cleft palate, Hypoplasia of the vagina, Small scrotum, Cryptorchidism... OMIM:119500
Glycogen Storage Disease Ii
Cardiomegaly, Macroglossia, Splenomegaly, Hepatomegaly OMIM:232300
Phocomelia, Schinzel Type
High, narrow palate, Hypoplasia of penis, Aplasia of the uterus, Anal atresia, Tracheoesophageal ... ORPHA:2879
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Anal atresia, Aplasia of the vagina OMIM:271520
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Congenital hydrocele, Parotitis, Hepatosplenomegaly, Splenomegaly, Epididymitis, Ca... OMIM:620376
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th... ORPHA:284339
Cardiomegaly, Macroglossia, Splenomegaly, Hepatomegaly OMIM:230000
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Single ventricle OMIM:619879
Cardiomegaly, Steatorrhea, Hepatomegaly, Fat malabsorption ORPHA:14
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Ogden Syndrome
Narrow palate, Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney... OMIM:300855
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology... ORPHA:109
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Macroglossia OMIM:252500
Yunis-Varon Syndrome
High, narrow palate, Clitoral hypertrophy, Hypospadias, Cardiomyopathy, Glossoptosis, Cryptorchid... ORPHA:3472
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Bohring-Opitz Syndrome
Optic atrophy, Cleft palate, Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Narrow palate, Patent foramen ovale, High palate, Cardiomegaly, Cryptorchidism OMIM:620371
Townes-Brocks Syndrome 1
Anal stenosis, Hypospadias, Rectovaginal fistula, Gastroesophageal reflux, Bifid scrotum, Anal at... OMIM:107480
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Meckel diverticulum, Aplasia of the uterus, Cleft palate, Tetralog... OMIM:274000
Williams Syndrome
Hypoplasia of penis, Tracheoesophageal fistula, Pulmonic stenosis, Mitral valve prolapse, Cardiom... ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, High, narrow palate, Cardiomegaly ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Dysphagia, Left ventricular hypertrophy, Cardiomegaly,... ORPHA:365
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Cryptorc... ORPHA:116
Coffin-Siris Syndrome 1
Duodenal ulcer, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, High palate, Cryptorchi... OMIM:135900
Liver Disease, Severe Congenital
Left atrial enlargement, Protein-losing enteropathy, Hepatomegaly, Hypospadias, Chronic gastritis... OMIM:619991
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, High palate, Unicornuate uterus, Ovarian cyst, Cryp... OMIM:614527
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, High palate, Abnormal reproductive system morphology ORPHA:1521
Limb-Mammary Syndrome
Cleft hard palate, Aplasia of the uterus, Bifid uvula, Submucous cleft soft palate, Cleft palate,... ORPHA:69085
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Wolf-Hirschhorn Syndrome
Hypospadias, Gastroesophageal reflux, Aplasia of the uterus, Cryptorchidism, Precocious puberty, ... OMIM:194190
Aicardi-Goutières Syndrome
Cardiomegaly, Micropenis, Hepatosplenomegaly, Hypertrophic cardiomyopathy ORPHA:51
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Splenomegaly, Epididymitis, Cardiomegaly, Macroglossia OMIM:256040
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Cleft palate, Bifid uterus, Ventricular septal defect, C... OMIM:236680
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re... ORPHA:75565
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Cleft palate, Bifid ut... OMIM:256520
Pallister-Killian Syndrome
Anal stenosis, Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus... OMIM:601803
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocele, Uteri... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Gastrointestinal infarctions, High, narrow palate, Hypospadias, Uterine rupture, Abnormal heart v... ORPHA:286
Loeys-Dietz Syndrome
Bifid uvula, High palate, Uterine rupture ORPHA:60030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Narrow palate, Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, High palate, S... OMIM:276820
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification ORPHA:51608
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism ORPHA:649
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer OMIM:600740


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.

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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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