Gene: Dnah6 MGI:107744

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Gene Summary

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

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
abnormal uterus morphology Dnah6em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Dnah6em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology 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

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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 morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Vesicoureteral reflux,... OMIM:617805
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Sex reversal, Hypoplasia of the ut... OMIM:612965
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Vanishing testis, Abnormal internal genitalia, Gonadal dysgenesis with ... OMIM:273250
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplas... OMIM:158330
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:612964
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly, Absent testis, Vanishing t... ORPHA:325124
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina, Ectopic kidney, Aplasia of... ORPHA:3109
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadoblastoma, Hypoplasia of the uterus, Streak o... ORPHA:168563
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy OMIM:617713
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Bilateral cryptorchidism, Aplasia... ORPHA:99429
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... OMIM:614841
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidney OMIM:601076
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Scimitar anomaly, Atrial septal defect, Bifid scrotum, Ventr... OMIM:618280
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Premature Ovarian Failure 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Proteinuria, Septate vagina, Distal renal tubular acidosis, Proximal renal tubular aci... OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Septate vagina, Vaginal atresia, Vesicouret... ORPHA:2237
Meacham Syndrome
Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, ... ORPHA:3097
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Vesic... ORPHA:83628
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Hymen, Imperforate
Hydrocolpos, Imperforate hymen, Hematocolpos OMIM:237100
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
Hemochromatosis, Type 1
Azoospermia, Hepatomegaly, Testicular atrophy, Cardiomegaly, Splenomegaly, Hypogonadotropic hypog... OMIM:235200
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly OMIM:269920
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Cardiomegaly, Splenomegaly, Incre... OMIM:256550
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
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, ... ORPHA:324410
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Single ventricle, Horseshoe kidney, Ven... OMIM:601186
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Perrault Syndrome 4
Premature ovarian insufficiency, Bicornuate uterus, Hypoplasia of the uterus, Hypoplasia of the o... OMIM:615300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hydronephrosis, Cardiomegaly, Hypospadias, Micropenis, Hypertrophic ca... OMIM:616897
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Bilatera... ORPHA:90793
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy OMIM:266500
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... ORPHA:3130
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Cardiomegaly OMIM:255120
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:168558
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Hydroureter, Ambiguous genitalia, female... OMIM:258040
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Horseshoe kidney, Aplasia of the uterus ORPHA:3320
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Midshaft hypospadias, Urogenital sinus anomaly, Ambiguous genitalia, male, Abnorm... ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Long penis, Clitoral hypertrophy, Precocious puberty in males, Hypoplasia of the uterus, Hypoplas... OMIM:202010
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Cardiomegaly, Dicarboxylic aciduria ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Non-obstructive azoospermia, Hypoplasia of the ut... ORPHA:432
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Hydronephrosis, A... ORPHA:94095
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic c... OMIM:201475
Beckwith-Wiedemann Syndrome
Cryptorchidism, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Pancreatic h... OMIM:130650
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Renal hypoplasia, Unilateral renal agenesis, Unicornuate uterus, Mu... OMIM:614527
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Atrial septal defect, Chordee, Ventricular septal defect, Hypoplasia of the uterus, Hy... OMIM:309801
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Renal insufficiency, Horseshoe kidney, Bifid scrotum, Abnormal hear... ORPHA:322
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Enlarged kidney, Hepatomegaly, Hydronephrosis, Cardiomegaly, Po... OMIM:608836
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Testicular atrophy, Cardiomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Card... ORPHA:465508
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... OMIM:271520
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Hypoplasia of the uter... ORPHA:90796
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Renal hypoplasia, Hypoplasia of the uterus, Epididymal cyst, Unila... OMIM:137920
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Myoglobinuria, Hepato... ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Hep... OMIM:602782
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Sickle Cell Anemia
Hematuria, Hepatomegaly, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Ventricular septal defect, Hepatomegaly, Cardiomegaly, Labial hypertrophy, Precoc... ORPHA:96191
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Ambiguous genitalia, Urogenital sinus anomaly, Long penis, Premature pubarche, Hypernatriuria, De... ORPHA:90794
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Hypog... OMIM:241080
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Fucosidosis
Hepatomegaly, Oligosacchariduria, Cardiomegaly, Splenomegaly OMIM:230000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Cardiomegaly, Cardiomyopathy OMIM:619259
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence OMIM:268800
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... ORPHA:284339
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Renal insufficiency, Bifid scrotum, Ventricular septal defect, Uret... OMIM:107480
Okamoto Syndrome
Unilateral renal hypoplasia, Bifid uterus, Ventricular septal defect, Abnormal mitral valve morph... ORPHA:2729
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardio... ORPHA:308552
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Tetralogy of Fallot, Hepatospl... OMIM:274000
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Histiocytoid Cardiomyopathy
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Renal cyst, Cardiomegaly ORPHA:137675
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Woodhouse-Sakati Syndrome
Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ovary, Decreased t... ORPHA:3464
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Cardiomegaly, Left ventricular hypertrophy, Bicuspid aortic valve, Patent f... OMIM:245600
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy OMIM:252500
Beckwith-Wiedemann Syndrome
Cryptorchidism, Multiple renal cysts, Enlarged kidney, Gonadoblastoma, Congenital megaureter, Vis... ORPHA:116
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Mucopolysacchariduria, Abnormal aortic valve morphology, Hepara... ORPHA:581
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:110100
Hydrolethalus Syndrome 1
Bifid uterus, Abnormal vagina morphology, Ventricular septal defect, Complete atrioventricular ca... OMIM:236680
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, C... OMIM:300967
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Williams Syndrome
Cryptorchidism, Abnormal endocardium morphology, Hypercalciuria, Vesicoureteral reflux, Cardiomeg... ORPHA:904
Yunis-Varon Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Renovascular hypertension, Clito... ORPHA:3472
Coffin-Siris Syndrome 1
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Hydroureter, Renal hypoplasia, C... OMIM:135900
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Urinary retention, Cardiomegaly ORPHA:97297
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Micropenis, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus, Ventricular septal defect, Patent foramen ovale, Transposition of t... OMIM:256520
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardio... ORPHA:365
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Uterine rupture, Uterine prolapse, Cystocele, Cervical insufficiency, Mitral valv... OMIM:130050
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Atrial septal defect, Ventricular septal defect, Hypospadi... OMIM:194190
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary, Polycystic ovaries, Prema... ORPHA:572333
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Epididymitis, Cardiomegaly, Splenomegaly OMIM:256040
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Atrial septal defect, Ventricular septal defect, Shawl scrotum, Pap... OMIM:180849
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Scrotal hypoplasia, Hypospadias, Anteriorly displaced genitalia, Aplasia of the u... OMIM:276820
Peters Plus Syndrome
Cryptorchidism, Ureteral duplication, Hypoplasia of the uterus, Multicystic kidney dysplasia, Bic... ORPHA:709
Peters-Plus Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Hypoplasia of ... OMIM:261540
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pallister-Killian Syndrome
Cryptorchidism, Small scrotum, Atrial septal defect, Ventricular septal defect, Hypoplastic labia... OMIM:601803
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Pericardial effusion, Myocardial calcification, Corti... ORPHA:51608
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Abnormal heart valve morphology, Renovascular hypertension, Uterine rupture, Uter... ORPHA:286
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Subv... OMIM:182250
Norrie Disease
Cryptorchidism, Uterine rupture ORPHA:649

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.

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MGI Allele Allele Type Produced
Dnah6tm43553(L1L2_gt0) Targeting vectors
Dnah6em1(IMPC)Mbp Exon Deletion Mice, Tissue

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