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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 cecum morphology Ap2s1em1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Ap2s1em1(IMPC)Tcp HOM   E9.5 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
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 tooth bud stage Ap2s1em1(IMPC)Tcp HOM   E12.5 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 Dorso Ventral

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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
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Gastroesophageal reflux, Hepatomegaly, Dysphagi... ORPHA:2198
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly OMIM:618654
Attrv122I Amyloidosis
Abnormality of enteric nervous system morphology, Cardiac amyloidosis, Hypertrophic cardiomyopath... ORPHA:85451
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology ORPHA:85447
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Cryptorchidism, Intestinal malrotation, Micropenis, D... OMIM:618280
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor OMIM:619170
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Left ventricular hypertrophy, Cardiomyopathy, Hepatomegaly OMIM:617713
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Cardiomegaly, Azoospermia, Splenomegaly, Hepatomegaly, Testicular ... OMIM:235200
Infantile Sialic Acid Storage Disease
High palate, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Mulibrey Nanism
Pericardial constriction, Hepatomegaly, Microglossia, Cardiomegaly, Myocardial fibrosis OMIM:253250
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux ORPHA:3137
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Macroorchidism, Cardiomegaly, ... ORPHA:324410
46,Xy Sex Reversal 11
Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, Urogenital sinus anomaly, G... OMIM:273250
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Necrotizing ent... OMIM:201475
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Lumbar Syndrome
Ectopic anus, Hypoplastic labia majora, Cryptorchidism, Micropenis, Anal atresia, Bifid uterus, B... ORPHA:83628
Hsd10 Disease, Infantile Type
Gastrointestinal dysmotility, Hypertrophic cardiomyopathy, Dysphagia, Cardiomegaly, Optic atrophy ORPHA:391428
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Premature Ovarian Failure 7
Hypoplasia of the uterus, Premature ovarian insufficiency, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis, Hypoplasia of the uterus,... OMIM:614837
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Abnormal auto... OMIM:105210
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Gastrointestinal hemorrhage, Gastrointestinal dysmotility, Atria... ORPHA:363705
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Micropenis, Blind vagina, Aplasia of th... ORPHA:90797
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Congenital Tufting Enteropathy
Abnormal small intestinal mucosa morphology, Anal atresia, Malabsorption, Villous atrophy, Optic ... ORPHA:92050
Neuraminidase Deficiency
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:256550
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypertrophic cardiomyopathy, Ventricular septal defect, Cleft palate, Cardiomegaly, H... OMIM:616897
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Cardiomegaly, Cholangiocarcinoma, Splenomegaly, Hepatomegaly, Test... ORPHA:465508
Mogs-Cdg
High palate, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect... ORPHA:79330
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias, Anal atresia OMIM:617466
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Ventricular septal defect, Cardiomegaly, Narrow palate OMIM:617022
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Intestinal malrotation, Micropenis, Ambiguous genitalia, fe... OMIM:258040
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
46,Xy Sex Reversal 4
High palate, Hypoplastic labia majora, Agonadism, Anal atresia, Gonadal dysgenesis, Sex reversal,... OMIM:154230
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ovotestis, Chordee, Histiocytoid cardiomyopathy, Micropenis, Atrial septal defe... OMIM:309801
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Macroglossia OMIM:261740
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Brachial plexus neuropathy, Dysphagia, Right ventricular hypertrophy ORPHA:268
Beck-Fahrner Syndrome
High palate, Cardiomegaly, Ventricular septal defect OMIM:618798
Scleroderma
Abnormal stomach morphology, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal t... ORPHA:801
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
Fg Syndrome Type 1
High palate, Malrotation of colon, Cryptorchidism, Atrial septal defect, Gastroesophageal reflux,... ORPHA:93932
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Premature Ovarian Failure 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:612310
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:268800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Vaginal atresia, Abnormal heart morpholo... ORPHA:2237
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Paternal Uniparental Disomy Of Chromosome 6
High palate, Cryptorchidism, Labial hypertrophy, Hepatomegaly, Macroglossia, Precocious puberty, ... ORPHA:96191
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uvula, Cleft palate, Bifid uterus ORPHA:2736
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Gastroesophageal reflux, Tracheoesophageal fistula, Pa... ORPHA:95430
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly, Macroglossia OMIM:232300
Systemic Sclerosis
Abnormal stomach morphology, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal t... ORPHA:90291
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Cleft palate, Abnormal cardiac septum morphology ORPHA:3320
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Optic atrophy OMIM:619259
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Azoospermia, Micropenis, Atrial septal defect, Splenomegaly, Hepatomegaly, Pu... OMIM:602782
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Enlarged kidney, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Narrow palate OMIM:608836
Fucosidosis
Cardiomegaly, Splenomegaly, Hepatomegaly, Macroglossia OMIM:230000
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Dysphagia, Cardiomegaly OMIM:608013
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Bifid uvula, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft... OMIM:614921
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema OMIM:146255
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Splenomegaly, Abnormal aortic v... ORPHA:581
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Cleft palate ORPHA:158687
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Enlarged kidney, Cryptorchidism, Pancreatic hyperplasia, Gonadoblastoma, Hepatome... OMIM:130650
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Cardiomegaly, Left ventricular hypertrophy ORPHA:308552
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Micropenis, Ovarian cyst, Ambiguous genital... ORPHA:90793
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Cardiomegaly, Hepatomegaly, Macroglossia OMIM:618143
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Submucous cleft soft palate, Left ventricular noncompaction, Patent foramen ovale, Cryptorchidism... OMIM:300967
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Bifid penis, Cryptorchidism, Absent pen... ORPHA:322
Okamoto Syndrome
Exaggerated median tongue furrow, Abnormal left ventricle morphology, Anal stenosis, Intestinal m... ORPHA:2729
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Anal atresia, Aplasia of the vagina, Absent external genitalia, Urethral a... OMIM:271520
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, High, narrow palate, Cardiomyopathy, Cardiomegaly ORPHA:228308
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Cryptorchidism, Abnormal vagina morphology, Midshaft hypospadias, Abnormal... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Cryptorchidism, Abnormal vagina morphology, Midshaft hypospadias, Abnormal... ORPHA:289548
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Sickle Cell Anemia
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:603903
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Histiocytoid Cardiomyopathy
Polycystic ovaries, Optic atrophy, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft p... ORPHA:137675
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Tracheoesophageal fistula, Hypoplasia of penis, Anal atres... ORPHA:2879
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Macroglossia, Cardiomegaly OMIM:252500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Cardiomegaly ORPHA:2463
Townes-Brocks Syndrome 1
Rectovaginal fistula, Tetralogy of Fallot, Anal stenosis, Cryptorchidism, Atrial septal defect, G... OMIM:107480
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Hepatosplenomegaly, Atrial septal defect, Meckel dive... OMIM:274000
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Pontocerebellar Hypoplasia Type 7
High palate, Aplasia of the uterus, Cryptorchidism, Micropenis, Absent penis, Abnormal scrotal ru... ORPHA:284339
Abetalipoproteinemia
Cardiomegaly, Fat malabsorption, Hepatomegaly, Steatorrhea ORPHA:14
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... ORPHA:3384
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Hamartomatous polyposis, Abnormal large intestine morphology, Intestinal polypo... ORPHA:109
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Cleft palate, Optic atrophy ORPHA:97297
Yunis-Varon Syndrome
Hypoplastic labia majora, Tetralogy of Fallot, Cryptorchidism, Micropenis, Atrial septal defect, ... ORPHA:3472
Williams Syndrome
Cryptorchidism, Colonic diverticula, Macroglossia, Rectal prolapse, Ventricular septal defect, Ca... 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
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... ORPHA:1677
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Cardiomegaly, Enlarged kidney, Cryptorchidism, Hypertrophic cardiomyopathy, Splen... ORPHA:116
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females, Premature pu... ORPHA:90794
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Dysphagia, Cardiomegaly, Left ventricula... ORPHA:365
Coffin-Siris Syndrome 1
High palate, Aplasia of the uterus, Tetralogy of Fallot, Gastric ulcer, Cryptorchidism, Intestina... OMIM:135900
Chromosome 17Q12 Deletion Syndrome
High palate, Aplasia of the uterus, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Unicornu... OMIM:614527
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, High palate, Abnormal reproductive system morphology ORPHA:1521
Limb-Mammary Syndrome
Submucous cleft soft palate, Aplasia of the uterus, Bifid uvula, Aplasia of the ovary, Cleft pala... ORPHA:69085
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Splenomegaly, Hepatomegaly, Macroglossia, Epididymitis, Cardiomegaly OMIM:256040
Aicardi-Goutières Syndrome
Micropenis, Cardiomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly ORPHA:51
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Abnormal vagina morphology, Bifid uterus, Ventricular sep... OMIM:236680
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia ORPHA:457284
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Aplasia of the uterus, Cryptorchidism, Atrial septal defect, Gastroes... OMIM:194190
Neu-Laxova Syndrome 1
Patent foramen ovale, Cryptorchidism, Bifid uterus, Ventricular septal defect, Transposition of t... OMIM:256520
Rubinstein-Taybi Syndrome 1
High palate, Papillary cystadenoma of the epididymis, Cryptorchidism, Atrial septal defect, Shawl... OMIM:180849
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Uterine rupture, Mitral valve prolapse,... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Cryptorchidism, Hypospadias, Uterine prolapse, High, narrow pala... ORPHA:286
Pallister-Killian Syndrome
Hypoplastic labia majora, Aplasia of the uterus, Bifid uvula, Small scrotum, Anal stenosis, Crypt... OMIM:601803
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve calcification, Cardiomegaly... OMIM:182250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Aplasia of the uterus, Small scrotum, Cryptorchidism, Anteriorly displaced genitalia... OMIM:276820
Loeys-Dietz Syndrome
High palate, Bifid uvula, Uterine rupture ORPHA:60030
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Myocardial calcification, Pericardial effusion, Ventricular hypertrophy 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
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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