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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
abnormal heart morphology Ap2s1em1(IMPC)Tcp HET Early adult 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
preweaning lethality, incomplete penetrance Ap2s1em1(IMPC)Tcp HOM Early adult 0.00
embryonic lethality prior to tooth bud stage Ap2s1em1(IMPC)Tcp HOM   E12.5 0.00
abnormal cecum morphology Ap2s1em1(IMPC)Tcp HET Early adult 0.00
decreased body length Ap2s1em1(IMPC)Tcp HET Early adult 5.24×10-11
hydrometra Ap2s1em1(IMPC)Tcp HET Early adult 0.00
enlarged heart Ap2s1em1(IMPC)Tcp HET Early adult 0.00
enlarged cecum 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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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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
Colitis, Cardiomegaly ORPHA:88643
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... ORPHA:2198
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... ORPHA:85451
Congenital Myopathy 8
High palate, Cardiomegaly OMIM:618654
Attrv30M Amyloidosis
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... OMIM:235200
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, High palate, Cardiomegaly OMIM:269920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Microglossia OMIM:253250
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:614702
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Cardiac-Urogenital Syndrome
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... OMIM:618280
Alpha-N-Acetylgalactosaminidase Deficiency
Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... OMIM:300280
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Gastroesophageal reflux, Hypertrophic card... OMIM:201475
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolaps... ORPHA:324410
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Hsd10 Disease, Infantile Type
Cardiomegaly, Gastrointestinal dysmotility, Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy ORPHA:391428
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy OMIM:212140
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... ORPHA:363705
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Cleft palate, Micropenis, Hypertrophic card... OMIM:616897
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... ORPHA:83628
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Mogs-Cdg
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt... ORPHA:79330
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Cleft ... OMIM:309801
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Card... ORPHA:465508
Beck-Fahrner Syndrome
High palate, Ventricular septal defect, Cardiomegaly OMIM:618798
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Oeis Complex
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... OMIM:258040
Fg Syndrome Type 1
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P... ORPHA:93932
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Brachial plexus neuropathy, Dysphagia, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly, Macroglossia OMIM:268800
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Anal atresia, Bifid uterus OMIM:617466
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High palate OMIM:617022
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... OMIM:105210
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Septate vagina, Uterus didelphys, Cleft palate, Abnormal heart morphology, Aplasia of the uterus,... ORPHA:2237
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Optic atrophy, Cardiomegaly OMIM:619259
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Abnormal cardiac septum morphology, Tetralogy of Fallot, Cleft palate ORPHA:3320
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Cleft palate, Bifi... OMIM:614921
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Narrow palate, High palate, Enlarged kidney OMIM:608836
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... OMIM:602782
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cleft palate, Cardiomegaly ORPHA:158687
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:308552
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus OMIM:146255
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia OMIM:608013
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Malabsorption, Splenomegaly, Optic atrophy, Macroglossia, Abnormal ao... ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Cleft palate, Mitral valve prolapse, Atrial septal defect, L... OMIM:245600
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Developmental And Epileptic Encephalopathy 95
Macroglossia, Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... OMIM:130650
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, High, narrow palate, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Cleft palate, Polycystic ov... ORPHA:137675
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... ORPHA:2729
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa... OMIM:300967
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias... ORPHA:322
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Cardiomegaly ORPHA:2463
Glycogen Storage Disease Ii
Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:232300
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Aplasia of the uterus, Micropenis, A... OMIM:614083
Phocomelia, Schinzel Type
Hypoplasia of penis, High, narrow palate, Cryptorchidism, Tracheoesophageal fistula, Cleft palate... ORPHA:2879
Fucosidosis
Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:230000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Anal atresia, Absent external genitalia OMIM:271520
Sickle Cell Disease
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:603903
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, High palate, Microp... ORPHA:284339
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Single ventricle OMIM:619879
Abetalipoproteinemia
Hepatomegaly, Fat malabsorption, Steatorrhea, Cardiomegaly ORPHA:14
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis... ORPHA:109
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, High, narrow palate, Pyloric stenosis, Cryp... ORPHA:3472
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Optic atrophy, Cleft palate, Cardiomegaly ORPHA:97297
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Ventricular septal defect, Cleft palate, Hepatosplenomegaly, Aplasia of the ... OMIM:274000
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifi... OMIM:107480
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Macroglossia, Hypertrophic cardiomyopathy, Enlarged kidney OMIM:252500
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Gastroesophageal reflu... ORPHA:904
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Macroglossia, Dysphagia, Left ventricular hypertrophy, Hypertrophic c... ORPHA:365
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Cleft palate, Macroglossia, Large intes... ORPHA:116
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly OMIM:618278
Coffin-Siris Syndrome 1
Ventricular septal defect, Intestinal malrotation, Duodenal ulcer, Hypospadias, Cryptorchidism, C... OMIM:135900
Liver Disease, Severe Congenital
Hepatomegaly, Chronic gastritis, Ventricular septal defect, Left atrial enlargement, Hypospadias,... OMIM:619991
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, Aplasia of the uterus, Unicornu... OMIM:614527
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Bifid uterus ORPHA:1521
Limb-Mammary Syndrome
Cleft hard palate, Cleft palate, Aplasia of the uterus, Aplasia of the ovary, Submucous cleft sof... ORPHA:69085
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly ORPHA:51
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small ... OMIM:194190
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Macroglossia, Parotitis OMIM:256040
Hydrolethalus Syndrome 1
Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular canal defect, Cle... OMIM:236680
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Cleft palate, Transposition of the great... OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Hypospadias, High, narrow palate, Cryptorchidism, Cystocele, Mit... ORPHA:286
Pallister-Killian Syndrome
Anal stenosis, Small scrotum, Ventricular septal defect, Intestinal malrotation, Hypospadias, Cry... OMIM:601803
Loeys-Dietz Syndrome
High palate, Bifid uvula, Uterine rupture ORPHA:60030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... OMIM:276820
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly ORPHA:51608
Norrie Disease
Cryptorchidism, Optic atrophy, Uterine rupture 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.

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

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