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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
enlarged heart Ap2s1em1(IMPC)Tcp HET Early adult 0.00
enlarged cecum Ap2s1em1(IMPC)Tcp HET Early adult 0.00
hydrometra Ap2s1em1(IMPC)Tcp HET 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 0.00
embryonic lethality prior to organogenesis Ap2s1em1(IMPC)Tcp HOM   E9.5 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

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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
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
Abnormal esophagus physiology, Gastroesophageal reflux, Hepatomegaly, Dysphagia, Gastrointestinal... ORPHA:2198
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic card... OMIM:620135
Attrv122I Amyloidosis
Left ventricular hypertrophy, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, ... ORPHA:85451
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology ORPHA:85447
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect OMIM:619170
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... OMIM:618052
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Hiatus hernia, Volvulus, Intestina... OMIM:619350
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Hemochromatosis, Type 1
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Splenomegaly, Azoospe... OMIM:235200
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, High palate OMIM:269920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Patent foramen ovale, ... OMIM:618652
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Gonadoblastoma, Testicular dysgenesis, Hypoplasi... ORPHA:168563
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal ventriculoarterial connection, Atrial septal defect... ORPHA:860
Mulibrey Nanism
Hepatomegaly, Microglossia, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... OMIM:612965
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy OMIM:614702
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis ORPHA:615
Leydig Cell Hypoplasia
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... ORPHA:755
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Ambiguous genitalia, Atrial septal defect, Tetralogy of Fallot, Ventricul... OMIM:618280
46,Xx Ovotesticular Difference Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... ORPHA:2138
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux ORPHA:3137
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Abnormal internal geni... OMIM:273250
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Ventricular hypertrophy, H... OMIM:300280
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Aortic valve stenosis, Macroorchidism, Mitral valve prolapse, Cardiomegaly, Ab... ORPHA:324410
Fixed Subaortic Stenosis
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... ORPHA:3092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Necrotizing ent... OMIM:201475
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Hsd10 Disease, Infantile Type
Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Cardiomegaly ORPHA:391428
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right atrial... ORPHA:555874
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Lumbar Syndrome
Anal atresia, Cryptorchidism, Micropenis, Ambiguous genitalia, Hypoplastic labia majora, Bifid ut... ORPHA:83628
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... ORPHA:99429
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... OMIM:306955
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... OMIM:115197
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular hypertrophy OMIM:619051
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Micropenis, Ambiguous genitalia, Fused labia majora, Clitoral hypertrophy, ... ORPHA:90797
Craniofaciofrontodigital Syndrome
Macroglossia, Gastroesophageal reflux, Pyloric stenosis, Atrial septal defect, Ventricular septal... ORPHA:363705
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Steatorrhea, Villous atrophy, Abnormal large intestinal mucosa morph... ORPHA:92050
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... ORPHA:1916
Neuraminidase Deficiency
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:256550
Mogs-Cdg
Hepatosplenomegaly, High palate, External genital hypoplasia, Left ventricular hypertrophy, Atria... ORPHA:79330
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Ventricular septal defect, Cleft palate, Hypertrophic cardiomyopathy, Cardiomegaly, H... OMIM:616897
Coronary Arterial Fistula
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... ORPHA:2041
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect OMIM:601005
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Anteriorly placed anus, Micropenis, Atrial septal defect, Ventricular septal defect... OMIM:309801
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Testicular atrophy, Cardiomyopathy, Hepatomegaly, Cholangiocarcinoma, S... ORPHA:465508
46,Xy Sex Reversal 7
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Oeis Complex
Duplicated colon, Anal atresia, Cryptorchidism, Anteriorly placed anus, Absent scrotum, Micropeni... OMIM:258040
Isolated Right Ventricular Hypoplasia
Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... ORPHA:439
Fg Syndrome Type 1
Anal atresia, Malrotation of colon, High palate, Gastroesophageal reflux, Pyloric stenosis, Atria... ORPHA:93932
Beck-Fahrner Syndrome
Cardiomegaly, High palate, Ventricular septal defect OMIM:618798
Scleroderma
Myocarditis, Interstitial cardiac fibrosis, Pericarditis, Gastroesophageal reflux, Abnormality of... ORPHA:801
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Dysphagia, Brachial plexus neuropathy, Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Townes-Brocks Syndrome 2
Anal atresia, Rectovaginal fistula, Bifid uterus, Hypospadias OMIM:617466
Testicular Agenesis
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... ORPHA:325124
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
Sandhoff Disease
Macroglossia, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly OMIM:268800
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly, Mitral stenosis, Aortic val... OMIM:231005
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy OMIM:617713
Lethal Congenital Contracture Syndrome 10
Macroglossia, High palate, Ventricular septal defect, Overriding aorta, Narrow palate, Cardiomegaly OMIM:617022
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly ORPHA:99931
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Cleft palate, Septate vagina, Vaginal atresia, Uterus didelphys, Aplas... ORPHA:2237
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly, Abnormal autonomic nervous system physiology, Orthostatic hypotensi... OMIM:105210
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, High palate, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly,... ORPHA:96191
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Atrial septal defect, Tetralogy of Fallot, Ventricul... ORPHA:95430
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Systemic Sclerosis
Myocarditis, Interstitial cardiac fibrosis, Abnormality of the gastrointestinal tract, Gastroesop... ORPHA:90291
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Optic atrophy OMIM:619259
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Bifid uvula, Cleft palate ORPHA:2736
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Aplasia of the uterus, Hydrocele testis OMIM:266810
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of Fallot ORPHA:3320
Cirrhotic Cardiomyopathy
Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... ORPHA:57777
Complete Atrioventricular Septal Defect
Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... ORPHA:1329
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Ventricular septal defect, Hepatomegaly, Cleft palate, Dilated cardiomyopathy, Cardi... OMIM:614921
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Enlarged kidney, Hepatomegaly, Narrow palate, Dilated cardiomyopathy, Cardiomegaly OMIM:608836
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Micropenis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defec... OMIM:602782
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricul... OMIM:261740
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Hepatomegaly, Dysphagia, Cardiomegaly, Splenomegaly OMIM:608013
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Pseudopapilledema, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Micropenis, Ambiguous genitalia, male, Precocious puberty in females, Female external genitalia i... ORPHA:90793
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly, Cleft palate ORPHA:158687
Mucopolysaccharidosis Type 3
Macroglossia, Malabsorption, Abnormal mitral valve morphology, Hepatomegaly, Optic atrophy, Dysph... ORPHA:581
Developmental And Epileptic Encephalopathy 95
Macroglossia, Cardiomegaly, Cryptorchidism, Hepatomegaly OMIM:618143
Beckwith-Wiedemann Syndrome
Macroglossia, Cryptorchidism, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomegaly, Hepa... OMIM:130650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Left ventricular hypertrophy, Atrial septal defect, Cleft palate, Bicuspid aortic valve, Patent f... OMIM:245600
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... OMIM:601214
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... ORPHA:168558
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Fucosidosis
Macroglossia, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Exstrophy-Epispadias Complex
Anal atresia, Abnormality of the gastrointestinal tract, Cryptorchidism, Bifid penis, Penoscrotal... ORPHA:322
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased testicular size, Cryptorchidism, Abnormality of the Leydig cells, Ambiguous genitalia, ... ORPHA:289548
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Hepatomegaly, High, narrow palate, Abnormal myocardium morphology, Cardiomegaly ORPHA:228308
Histiocytoid Cardiomyopathy
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Optic atrophy, Cleft palate, Cardiom... ORPHA:137675
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Gastroesophageal reflux, Cryptorchidism, Atrial se... OMIM:300967
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Atrial septal defect, Ventricular septal defect, Bicuspid aortic v... OMIM:620066
Okamoto Syndrome
Gastroesophageal reflux, Abnormal left ventricle morphology, Ventricular septal defect, Abnormal ... ORPHA:2729
Phocomelia, Schinzel Type
Anal atresia, Cryptorchidism, High, narrow palate, Cleft palate, Hypoplasia of penis, Tracheoesop... ORPHA:2879
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Aplasia of the vagina, Absent external genitalia, Aplasia of the uterus OMIM:271520
Glycogen Storage Disease Ii
Macroglossia, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, High palate ORPHA:2463
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid uvula, Hypoplasia of the uterus, Cleft palate, Hypoplastic labia majora, Sm... OMIM:119500
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Micropenis, Cleft palate, Tracheoesophageal fistula, Aplasia of... OMIM:614083
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Pontocerebellar Hypoplasia Type 7
High palate, Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy,... ORPHA:284339
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Hamartomatous polyposis, Narrow palate, Abnormal large intestine morphology, In... ORPHA:109
Abetalipoproteinemia
Steatorrhea, Cardiomegaly, Hepatomegaly, Fat malabsorption ORPHA:14
Meckel Syndrome 14
Single ventricle, Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Ogden Syndrome
Secundum atrial septal defect, High palate, Cryptorchidism, Decreased testicular size, Left atria... OMIM:300855
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... ORPHA:980
Truncus Arteriosus
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... ORPHA:3384
Townes-Brocks Syndrome 1
Rectoperineal fistula, Anal atresia, Gastroesophageal reflux, Cryptorchidism, Duodenal atresia, A... OMIM:107480
Yunis-Varon Syndrome
Cryptorchidism, Micropenis, Pyloric stenosis, Ventricular septal defect, Atrial septal defect, Te... ORPHA:3472
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ven... OMIM:274000
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly, Optic atrophy, Cleft palate ORPHA:97297
Mucolipidosis Ii Alpha/Beta
Macroglossia, Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:252500
Williams Syndrome
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Malabsorption, Hypertrophic... ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium
Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Left ventricular hypertrophy, Hepatomegaly, Dysphagia, Hypertrophic cardiomyopathy,... ORPHA:365
Beckwith-Wiedemann Syndrome
Macroglossia, Cryptorchidism, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Hepatoblastoma, Clef... ORPHA:116
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Coffin-Siris Syndrome 1
Gastric ulcer, High palate, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Tetr... OMIM:135900
Liver Disease, Severe Congenital
Left atrial enlargement, Atrial septal defect, Ventricular septal defect, Protein-losing enteropa... OMIM:619991
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Testicular adrenal rest tumor, Decreased testicular size, Ambiguous genitalia, Fused labia majora... ORPHA:90794
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... ORPHA:99125
Chromosome 17Q12 Deletion Syndrome
High palate, Cryptorchidism, Ovarian cyst, Unicornuate uterus, Aplasia of the vagina, Aplasia of ... OMIM:614527
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
High palate, Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Limb-Mammary Syndrome
Bifid uvula, Cleft hard palate, Cleft palate, Submucous cleft soft palate, Aplasia of the ovary, ... ORPHA:69085
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy ORPHA:51
Wolf-Hirschhorn Syndrome
Gastroesophageal reflux, Cryptorchidism, Precocious puberty, Atrial septal defect, Ventricular se... OMIM:194190
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Macroglossia, Hepatomegaly, Parotitis, Cardiomegaly, Splenomegaly, Epididymitis OMIM:256040
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... ORPHA:75565
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Cleft palate, Bifid uterus, Ab... OMIM:236680
Neu-Laxova Syndrome 1
Cryptorchidism, Ventricular septal defect, Cleft palate, Bifid uterus, Patent foramen ovale, Tran... OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cervical insufficiency, Uterine rupture, Cystocele, Mitral valve prolapse, Uterin... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Abnormal intestine morphology, Gastrointestinal infarctions, Abnormal heart valve... ORPHA:286
Pallister-Killian Syndrome
Macroglossia, Anal atresia, Cryptorchidism, Anteriorly placed anus, Bifid uvula, Atrial septal de... OMIM:601803
Loeys-Dietz Syndrome
High palate, Bifid uvula, Uterine rupture ORPHA:60030
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, Small scrotum, Hyposp... OMIM:276820
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aor... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Myocardial calcification, Ventricular hypertrophy ORPHA:51608
Norrie Disease
Optic atrophy, Cryptorchidism, 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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