Gene: Ap2s1 MGI:2141861

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Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
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
embryonic lethality prior to organogenesis Ap2s1em1(IMPC)Tcp HOM   E9.5 0.00
enlarged heart Ap2s1em1(IMPC)Tcp HET Early adult 0.00
decreased body length Ap2s1em1(IMPC)Tcp HET   Early adult 1.10×10-14
enlarged cecum Ap2s1em1(IMPC)Tcp HET Early adult 0.00
hydrometra 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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

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
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
Cardiomegaly, Colitis ORPHA:88643
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Hepatomegal... ORPHA:2198
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly OMIM:618654
Attrv30M Amyloidosis
Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Scimitar anomaly, Atrial septal defect, Bifid scrotum, Ventr... OMIM:618280
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Hemochromatosis, Type 1
Azoospermia, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly, Splenomega... OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor OMIM:619170
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Cardiomegaly, Splenomegaly OMIM:269920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Male hypogonadism, Abnormal vagina morphology, Gonado... ORPHA:168563
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Microglossia, Cardiomegaly, Pericardial constriction OMIM:253250
Alpha-N-Acetylgalactosaminidase Deficiency
Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Abnormal internal genitalia, Gonadal dysgenesis with ... OMIM:273250
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve steno... ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hypertrophic card... OMIM:201475
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Hsd10 Disease, Infantile Type
Dysphagia, Cardiomegaly, Optic atrophy, Gastrointestinal dysmotility, Hypertrophic cardiomyopathy ORPHA:391428
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Lumbar Syndrome
Cryptorchidism, Ambiguous genitalia, Bifid uterus, Bifid scrotum, Ectopic anus, Hypoplastic labia... ORPHA:83628
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:612964
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autono... OMIM:105210
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Cleft palate, Hypospadias, Micropenis, Hypertrophic card... OMIM:616897
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Symptomatic Form Of Hemochromatosis Type 1
Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly, Cholangiocarcinoma, Spl... ORPHA:465508
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Anal atresia, Hypospadias OMIM:617466
Lethal Congenital Contracture Syndrome 10
Narrow palate, Ventricular septal defect, Cardiomegaly, Overriding aorta, High palate OMIM:617022
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Atrial septal defect, Chordee, Ventricular septal defect, Hypoplasia of the uterus, An... OMIM:309801
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Oeis Complex
Duplicated colon, Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Ambiguous genitalia, f... OMIM:258040
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Dysphagia, Cardiomegaly, Right ventricular hypertrophy, Brachial plexus neuropathy ORPHA:268
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Pericarditis, Abnormality of the gastrointestin... ORPHA:801
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplasia of the vagina OMIM:158330
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly, Absent testis, Vanishing t... ORPHA:325124
Fg Syndrome Type 1
Cryptorchidism, Atrial septal defect, Mitral valve prolapse, Gastroesophageal reflux, Malrotation... ORPHA:93932
Beck-Fahrner Syndrome
High palate, Cardiomegaly, Ventricular septal defect OMIM:618798
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... OMIM:614841
Sandhoff Disease
Macroglossia, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Septate vagina, Vaginal atresia, Uterus didelphys, Cleft palate, Aplas... ORPHA:2237
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Bifid uterus, Cleft palate ORPHA:2736
Congenital Tufting Enteropathy
Optic disc coloboma, Villous atrophy, Abnormal small intestinal mucosa morphology, Steatorrhea, A... ORPHA:92050
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Macroglossia, Ventricular septal defect, High palate, Hepatomegaly, Cardiomegaly,... ORPHA:96191
Premature Ovarian Failure 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:612310
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, High palate OMIM:608836
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomegaly, Cardiomyopathy OMIM:619259
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus, Cleft palate ORPHA:3320
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus OMIM:266810
Glycogen Storage Disease Ii
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly OMIM:232300
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Pericarditis, Abnormality of the gastrointestin... ORPHA:90291
Gaucher Disease, Perinatal Lethal
Dysphagia, Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly OMIM:608013
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Hep... OMIM:602782
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Fucosidosis
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly OMIM:230000
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Septate vagina, Pseudopapilledema, Uterus didelphys, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Cleft palate ORPHA:158687
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Bilatera... ORPHA:90793
Mucopolysaccharidosis Type 3
Macroglossia, Abnormal mitral valve morphology, Dysphagia, Abnormal aortic valve morphology, Hepa... ORPHA:581
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Macroglossia, Cardiomegaly OMIM:618143
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Anal atresia, Apl... ORPHA:94095
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Enlarged kidney, Gonadoblastoma, Cardiomyopathy, Hepatomegaly, Panc... OMIM:130650
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bifid scrotum, Anal stenosis, Abnormal heart morphology, Abnormalit... ORPHA:322
Okamoto Syndrome
Bifid uterus, Anal stenosis, Abnormal heart morphology, Ventricular septal defect, Abnormal mitra... ORPHA:2729
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Anal atresia, Aplasia of the uterus, Aplasia of the ... OMIM:271520
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hepatomegaly, Cardiomegaly, High, narrow palate, Cardiomyopathy ORPHA:228308
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Anal stenosis, Urethral valve, Ventricular septal de... OMIM:107480
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:168558
Histiocytoid Cardiomyopathy
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Cardiomegaly, Cleft palate, Optic at... ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Gastroesophageal reflux, Submuco... OMIM:300967
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cleft palate, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic v... OMIM:245600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:289548
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Anal atresia, Cleft palate, High, narrow palate, Tracheoes... ORPHA:2879
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Greenberg Dysplasia
Intestinal malrotation, Hepatomegaly, Cardiomegaly, Abnormal intestine morphology, Hepatosplenome... OMIM:215140
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Cardiomegaly ORPHA:2463
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Mucolipidosis Ii Alpha/Beta
Macroglossia, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy OMIM:252500
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hepato... OMIM:274000
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Absent penis, Abnormal s... ORPHA:284339
Abetalipoproteinemia
Hepatomegaly, Fat malabsorption, Cardiomegaly, Steatorrhea ORPHA:14
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly, Cleft palate ORPHA:97297
Yunis-Varon Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Clitoral hypertrophy, Hypoplasti... ORPHA:3472
Williams Syndrome
Cryptorchidism, Abnormal endocardium morphology, Cardiomegaly, Colonic diverticula, Mitral valve ... ORPHA:904
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Uterine neoplasm, Intestinal polyposis, Abnormal large intestine morphology, Hamar... ORPHA:109
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Enlarged kidney, Gonadoblastoma, Visceromegaly, Hepatomegaly, Splen... ORPHA:116
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Dysphagia, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypertrophic c... ORPHA:365
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, High palate, Aplasia of the ... OMIM:614527
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Decreased testicul... ORPHA:90794
Coffin-Siris Syndrome 1
Cryptorchidism, Gastric ulcer, Atrial septal defect, Intussusception, Ventricular septal defect, ... OMIM:135900
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
High palate, Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Micropenis, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Hydrolethalus Syndrome 1
Bifid uterus, Abnormal vagina morphology, Ventricular septal defect, Complete atrioventricular ca... OMIM:236680
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
Macroglossia, Epididymitis, Hepatomegaly, Cardiomegaly, Splenomegaly, Parotitis OMIM:256040
Limb-Mammary Syndrome
Aplasia of the ovary, Submucous cleft soft palate, Cleft palate, Bifid uvula, Cleft hard palate, ... ORPHA:69085
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Atrial septal defect, Malrotation of small bowel, Ventricu... OMIM:194190
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus, Ventricular septal defect, Cleft palate, Patent foramen ovale, Tran... OMIM:256520
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Atrial septal defect, Narrow palate, Ventricular septal defect, Aga... OMIM:180849
Pallister-Killian Syndrome
Cryptorchidism, Macroglossia, Small scrotum, Atrial septal defect, Anal stenosis, Ventricular sep... OMIM:601803
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Mitral valve prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Uterin... OMIM:130050
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Mitral valve prolapse, Gastrointestinal infarctions, Abnormal heart valve morphol... ORPHA:286
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Subv... OMIM:182250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Narrow palate, Scrotal hypoplasia, Hypospadias, High palate, Anteriorly displaced... OMIM:276820
Loeys-Dietz Syndrome
Bifid uvula, High palate, Uterine rupture ORPHA:60030
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Myocardial calcification 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
Ap2s1em1(IMPC)Tcp Intra-exon deletion Mice, Tissue
Ap2s1tm454684(L1L2_GT0_LF2A_LacZ_BetactP_neo) Targeting vectors
Ap2s1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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