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Gene: Dnah6 MGI:107744

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Gene Summary

Name:
dynein, axonemal, heavy chain 6
Synonyms:
A730004I20Rik,  Dnahc6

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Dnah6em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Dnah6em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Dnah6em1(IMPC)Mbp HOM Early adult 0.00
hydrometra Dnah6em1(IMPC)Mbp HOM 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

120 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Histopathology

Images

5 Images

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Human diseases caused by Dnah6 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 Dnah6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Ethanolaminosis
Cardiomegaly OMIM:227150
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Hydronephrosis, Abnormality of the uterus, Multicystic kidney dysplasia, H... OMIM:617805
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
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 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
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... OMIM:194072
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, P... ORPHA:3109
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
Attrv30M Amyloidosis
Cardiomegaly, Nephropathy, Cardiomyopathy, Abnormal renal physiology ORPHA:85447
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Nephrotic syndrome, Ne... OMIM:146255
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
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
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus, Vesicoureteral ref... ORPHA:2237
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... ORPHA:83628
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... OMIM:618280
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly, Nephrotic syndrome OMIM:269920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonad... OMIM:235200
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Pro... OMIM:256550
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, E... OMIM:212140
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure... OMIM:154230
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect... OMIM:616897
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Attrv122I Amyloidosis
Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Meckel Syndrome 12
Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Ventricular septal defect, Bicornuate... OMIM:601186
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
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:289548
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria ORPHA:42
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Horseshoe kidney, Abnormal cardiac septum morphology ORPHA:3320
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... ORPHA:432
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr... OMIM:130650
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Hepatomegaly, Dicarboxylic aciduria, Hypertrophic cardiomyopathy,... OMIM:201475
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy ORPHA:391428
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... ORPHA:322
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ... OMIM:614527
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Ketonuria OMIM:255120
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Mogs-Cdg
External genital hypoplasia, Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Card... ORPHA:79330
Meckel Syndrome 14
Polycystic kidney dysplasia, Ambiguous genitalia, Aplasia of the uterus, Single ventricle OMIM:619879
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
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Testicul... ORPHA:465508
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Myoglobinuria, Polycystic... ORPHA:228308
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Bicornuate uterus, Nephrolithiasis, Renal cyst, Glycosuri... OMIM:137920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic... OMIM:608836
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Azoospermia, Hypergonadotropic hypogonadism, Pulmonic stenosis, Hepatosplenomegaly,... OMIM:602782
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Histiocytoid cardiomyopathy, Chordee, Micropenis, O... OMIM:309801
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca... ORPHA:57777
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Fucosidosis
Cardiomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:349
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... ORPHA:96191
Sickle Cell Disease
Hepatomegaly, Hematuria, Splenomegaly, Cardiomegaly, Renal insufficiency OMIM:603903
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... ORPHA:90794
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:308552
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... OMIM:261740
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Cryptorchidism, Hepatomegaly OMIM:618143
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Aplasia of the uterus, Micropenis, Unilateral renal agenesis OMIM:614083
Okamoto Syndrome
Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val... ORPHA:2729
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
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
Gaucher Disease, Perinatal Lethal
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:608013
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Ureteral duplication, Aplasia of the uterus, Vesicoureteral reflux... OMIM:274000
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Mucopolysacchariduria, Abnormal mitral valve morp... ORPHA:581
Fucosidosis
Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria OMIM:230000
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Glycogen Storage Disease Ii
Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly OMIM:232300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c... OMIM:300967
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Ven... OMIM:107480
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Hypoplasia of the uterus, Hyp... OMIM:618419
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Ureteral duplication, Congenital megaureter, Hypercalciuria, Vesic... ORPHA:116
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... OMIM:252500
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Bifid uterus, Hydronephrosis, Ventricular septal defect,... OMIM:236680
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Yunis-Varon Syndrome
Clitoral hypertrophy, Hypospadias, Ventricular septal defect, Cardiomyopathy, Renal artery stenos... ORPHA:3472
Williams Syndrome
Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol... ORPHA:904
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Cryptorchidism OMIM:620371
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni... ORPHA:3384
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ... ORPHA:1677
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hydroureter, Hypospadias, Ectopic kidney, Aplasia of the uterus, Cryptorchi... OMIM:135900
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Congenital hydrocele, Hepatosplenomegaly, Splenomegaly, Epididymitis, Cardiomegaly OMIM:620376
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:365
Bohring-Opitz Syndrome
Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Aicardi-Goutières Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, Hepatosplenomegaly ORPHA:51
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Hypospadias, Patent foramen ovale, Alpha-aminobutyric acid... OMIM:619991
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocele, Uteri... OMIM:130050
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Atrial septal defect, Ven... OMIM:194190
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Bifid uterus, Ventricu... OMIM:256520
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Epididymitis OMIM:256040
Peters Plus Syndrome
Ureteral duplication, Hypospadias, Multicystic kidney dysplasia, Bicuspid pulmonary valve, Clitor... ORPHA:709
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Ventricular septal defect, Clitoral hypoplasia, Pulmonic steno... OMIM:261540
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Abnormal heart valve morphology, Uterine prolapse, Renovascular hyp... ORPHA:286
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medullary nephrocalcinosis, Pericardial effusion, Hyperphosphaturia, Nep... ORPHA:51608
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Ventricular s... OMIM:601803
Norrie Disease
Uterine rupture, Cryptorchidism ORPHA:649
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250

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 Dnah6

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 Dnah6.

No publications found that use IMPC mice or data for Dnah6.

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
Dnah6tm43553(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dnah6em1(IMPC)Mbp Exon Deletion Mice, Tissue

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