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Gene: Otol1 MGI:2685260

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Gene Summary

Name:
otolin 1
Synonyms:
Gm414,  LOC229389

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 Otol1em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Otol1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Otol1em1(IMPC)Mbp HOM Early adult 0.00
hydrometra Otol1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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 Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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Human diseases caused by Otol1 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 Otol1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ethanolaminosis
Cardiomegaly OMIM:227150
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,... OMIM:620135
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... OMIM:273250
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonad... OMIM:235200
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,... ORPHA:3109
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... OMIM:618280
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Neuraminidase Deficiency
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Uterus didelphys, Abnormal heart morphology, Vaginal atresia, Septate vagina ORPHA:2237
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micropenis OMIM:616897
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Hepatomegaly ORPHA:42
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3320
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Combined Oxidative Phosphorylation Deficiency 33
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly ORPHA:99931
Mogs-Cdg
External genital hypoplasia, Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Card... ORPHA:79330
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... OMIM:154230
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Testicul... ORPHA:465508
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:201475
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Truncus arteriosus, Ventricular septal defect, Bicornuate uterus, Pulmon... OMIM:601186
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... ORPHA:432
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosis, Hepatosplenomegaly,... OMIM:602782
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus, Single ventricle OMIM:619879
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... ORPHA:96191
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Histiocytoid cardiomyopathy, Chordee, Micropenis, O... OMIM:309801
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Fucosidosis
Cardiomegaly, Hepatomegaly ORPHA:349
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:268800
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Cryptorchidism, Hepatomegaly OMIM:618143
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly, Overgrowth o... OMIM:130650
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Enlarged kidney, Hepatomegaly, Dilated cardiomyopathy OMIM:608836
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:308552
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect OMIM:614921
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Ab... ORPHA:322
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext... ORPHA:90794
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology ORPHA:228308
Histiocytoid Cardiomyopathy
Cardiomegaly, Polycystic ovaries, Hepatomegaly, Ventricular septal defect ORPHA:137675
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c... OMIM:300967
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Okamoto Syndrome
Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ... ORPHA:2729
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Abnormal myocar... ORPHA:581
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Aplasia of the uterus, Hepatosplenomegaly, Tetralogy of Fallot, At... OMIM:274000
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:232300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Fucosidosis
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly OMIM:252500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Cryptorchidism OMIM:620371
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Congenital hydrocele, Hepatosplenomegaly, Splenomegaly, Epididymitis, Cardiomegaly OMIM:620376
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Bifid uterus, Ventricular septal defect, Complete atriov... OMIM:236680
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Yunis-Varon Syndrome
Clitoral hypertrophy, Hypospadias, Ventricular septal defect, Cardiomyopathy, Tetralogy of Fallot... ORPHA:3472
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia OMIM:618419
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Aicardi-Goutières Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, Hepatosplenomegaly ORPHA:51
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Glycogen Storage Disease Due To Acid Maltase Deficiency
Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy ORPHA:365
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Ventricular septal defect, Rectoperineal fistul... OMIM:107480
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocele, Uteri... OMIM:130050
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Bifid uterus, Ventricu... OMIM:256520
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome... ORPHA:116
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Atrial septal defect, Ven... OMIM:194190
Williams Syndrome
Abnormal endocardium morphology, Atrial septal defect, Cardiomegaly, Hypoplasia of penis, Ventric... ORPHA:904
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Cryptorchidism, Tetralogy of Fallot, At... OMIM:135900
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Hypospadias, Patent foramen ovale, Dilatation of the ventr... OMIM:619991
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Epididymitis OMIM:256040
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Peters Plus Syndrome
Hypospadias, Bicuspid pulmonary valve, Clitoral hypoplasia, Pulmonic stenosis, Hypoplastic left h... ORPHA:709
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Abnormal heart valve morphology, Uterine prolapse, Mitral valve pro... ORPHA:286
Peters-Plus Syndrome
Hypospadias, Ventricular septal defect, Clitoral hypoplasia, Pulmonic stenosis, Hypoplasia of the... OMIM:261540
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Ventricular s... OMIM:601803
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification ORPHA:51608

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 Otol1

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 Otol1.

No publications found that use IMPC mice or data for Otol1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Otol1tm44967(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Otol1em1(IMPC)Mbp Intra-exon deletion Mice, Tissue
Otol1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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