Gene Summary


IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Scelem1(IMPC)Ccpcz HOM Early adult 0.00
small testis Scelem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Scelem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Scelem1(IMPC)Ccpcz HOM   Early adult 7.08×10-07
enlarged thymus Scelem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Scelem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Scelem1(IMPC)Ccpcz HOM Early adult 0.00

Download data as:  TSV  XLS

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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.


XRay Images Skull Dorso Ventral Orientation

15 Images


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

15 Images


XRay Images Forepaw

15 Images


XRay Images Hind Leg and Hip

30 Images


XRay Images Skull Lateral Orientation

15 Images

Human diseases caused by Scel 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Scel by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Tetralogy of Fallot, Perineal hypospadias... OMIM:615542
Cardiomegaly OMIM:227150
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Abnormal heart morphology, Cryptorchidism OMIM:184800
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly OMIM:601163
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Cardiom... OMIM:235200
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Syndactyly, Tetralogy of Fallot, Hypothyroidism, Cutaneo... OMIM:601005
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Splenomegaly, Micropenis, Hepatosplenomega... OMIM:602782
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Adducted thumb, Talipes equinovarus, Hypoplasia of the thymus, Cardiom... OMIM:617022
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Metaphyseal irregularity, Cardiomegaly, Splenomegaly OMIM:269920
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioven... ORPHA:324410
Aarskog-Scott Syndrome
Testicular atrophy, Broad palm, Single transverse palmar crease, Elevated circulating follicle st... OMIM:305400
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Metaphyseal widening, Broad first metatarsal, Cardio... OMIM:239850
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Limited mobility of... OMIM:222300
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism OMIM:617713
Congenital Toxoplasmosis
Hepatomegaly, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia ORPHA:858
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Cardiom... ORPHA:465508
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly,... OMIM:256550
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... ORPHA:860
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Adducted thumb, Decreased fi... OMIM:616897
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Decreased circulating cortisol level OMIM:618838
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red c... OMIM:603903
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Thickened cortex of long bones, Cardiomegaly, Myocardial ... OMIM:253250
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Cardiomegaly, Iliac crest serration, Hypoplastic ischia, Short long bone, Mi... OMIM:613320
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... ORPHA:85451
Hepatomegaly, Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Cardiome... ORPHA:79330
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Lethal Acantholytic Erosive Disorder
3-4 finger syndactyly, Cardiomegaly, Cardiomyopathy, 4-5 finger syndactyly, Clinodactyly of the 5... ORPHA:158687
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly OMIM:212140
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Broad hallux phalanx, Cardiomegaly, Abnormality of the metaphysis, F... ORPHA:1517
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly, Clinodactyly of the 5th finger, Short distal phalanx of finger, Short... OMIM:618143
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Greenberg Dysplasia
Epiphyseal stippling, Hepatosplenomegaly, Abnormal ossification involving the femoral head and ne... OMIM:215140
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiomegaly, Myocardial necrosis, Myocardia... OMIM:300257
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Clubbing, Right atrial enlargement, Atrial septal defect, Muscular ventricular sept... ORPHA:439
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Bicuspid aortic valve, Talipes equinovarus, Spatulate thumbs, Broad distal phalang... OMIM:245600
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... OMIM:306955
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoplastic scapulae, Talipes equinovarus, Metaphyseal... OMIM:252500
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Cardiomyopathy OMIM:266500
Yunis-Varon Syndrome
Hypospadias, Short middle phalanx of finger, Micropenis, Syndactyly, Short toe, Abnormal pelvis b... ORPHA:3472
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Talipes equinovarus OMIM:619036
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Tapered finger, Long fingers, Cardiomegaly, Tapered toe, Lo... OMIM:608836
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Palmoplantar cutis laxa, Pericardial effusion, ... ORPHA:363705
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Impotence OMIM:105210
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Arachnodactyly, Increased arm span, Thin metatarsal cortices, Slender long bone, Th... ORPHA:2463
Truncus Arteriosus
Adrenocortical abnormality, Ventricular septal defect, Truncus arteriosus, Right ventricular hype... ORPHA:3384
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Abnormal heart morphology, Cubitus valgus, Cardiomegaly, Hypoplastic pelvis OMIM:114620
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Coxa valga OMIM:230000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytos... OMIM:618278
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonat... ORPHA:96191
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Hallux valgus, Pineal cyst, Ventricular septal def... OMIM:300967
Beck-Fahrner Syndrome
Ventricular septal defect, Hip dysplasia, Cardiomegaly OMIM:618798
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Flexion contracture of toe, Hypoplastic scapulae, Lymphadenopathy, L... OMIM:256040
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadoblastoma, Cardiomegaly, ... OMIM:130650
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly, Proximal muscle weakness in upper limbs, Scapular wi... ORPHA:268
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Hallux valgus, Thymus hyperplasia, Diabetes insipidus, Long pen... ORPHA:744
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:608013
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Talipes equinovarus, Hypoplastic distal rad... OMIM:182250
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Hepatomegaly, Cardiomegaly, Hypothyroidism ORPHA:349
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Arachnodactyly, Long toe, Campt... ORPHA:3063
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Palmoplantar keratod... OMIM:601214
Bohring-Opitz Syndrome
Annular pancreas, Cardiomegaly, Cholelithiasis, Metacarpophalangeal joint contracture, Fixed elbo... ORPHA:97297
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... ORPHA:57777
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... OMIM:614921
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia OMIM:300322
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Avascular necro... ORPHA:581
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Hepatomegaly, Talipes equinovarus, Acanthocytosis, Anemia, Cardiomegaly, Hypothyroidism, Reticulo... ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:308552
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Dilated cardiomyopathy, Talipes equinovarus,... ORPHA:273
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, G... ORPHA:116
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Micropenis, Hepatosplenome... ORPHA:51
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Polycystic ovaries, Cardiomegaly ORPHA:137675
Williams Syndrome
Hallux valgus, Bicuspid aortic valve, Overriding aorta, Abnormality of pelvic girdle bone morphol... ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Arachnodactyly ORPHA:91387
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Abnormal calcification of the carpal bones, Stippled calcificatio... ORPHA:51608
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy ORPHA:365
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280


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 Scel

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 Scel.

No publications found that use IMPC mice or data for Scel.

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MGI Allele Allele Type Produced
Scelem1(IMPC)Ccpcz Inter-exon deletion Mice

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