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 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 Lateral Orientation

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

60 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
Ethanolaminosis
Cardiomegaly OMIM:227150
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney dysplasia, Vesico... OMIM:617805
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
46,Xy Sex Reversal 11
Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, Urogenital sinus anomaly, G... OMIM:273250
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of th... OMIM:158330
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Caudal Duplication Anomaly
Uterus didelphys, Ureteral duplication OMIM:607864
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Azoospermia, Hypoplasia of the uterus,... OMIM:614837
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Micropenis, Cryptorchi... ORPHA:755
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Premature Ovarian Failure 7
Hypoplasia of the uterus, Premature ovarian insufficiency, Gonadal dysgenesis, Clitoral hypertrophy OMIM:612964
Diethylstilbestrol Syndrome
Epididymal cyst, Micropenis, Cryptorchidism, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, ... OMIM:266810
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Testicular Agenesis
Absent testis, Micropenis, Absent external genitalia, Abnormal vas deferens morphology, Urethrova... ORPHA:325124
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Nephropath... OMIM:194072
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Ectopic kidney, Horseshoe kidney, Hypoplasia of... ORPHA:3109
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Ovotestis, Hypoplasia of the vagina, Micropenis, Azoospermia... OMIM:278850
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy OMIM:617713
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly, Abnormal renal physiology, Nephropathy ORPHA:85447
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Micropenis, Azoospermia, Blind vagina, Aplasia of th... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Premature Ovarian Failure 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Micropenis, Cryptorchidism, Dysplastic tricuspid valv... OMIM:618280
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Nephrocalcinosis, Nephrotic syndrome, Septate vagina, Hematuria, Proteinur... OMIM:146255
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Meacham Syndrome
Tetralogy of Fallot, Horseshoe kidney, Conotruncal defect, Crossed fused renal ectopia, Cryptorch... ORPHA:3097
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Hymen, Imperforate
Hydrocolpos, Hematocolpos, Imperforate hymen OMIM:237100
Lumbar Syndrome
Hypoplastic labia majora, Micropenis, Cryptorchidism, Bladder exstrophy, Hypospadias, Bifid uteru... ORPHA:83628
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Vaginal Atresia
Vaginal hematocele, Uterus didelphys, Vaginal atresia, Transverse vaginal septum, Abnormality of ... ORPHA:65681
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Testicular atrophy, Cardi... OMIM:235200
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Infantile Sialic Acid Storage Disease
Cardiomegaly, Nephrotic syndrome, Hepatomegaly, Splenomegaly OMIM:269920
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Biventricular hypertrophy, Abnormal mi... ORPHA:860
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Splenomegaly, Hepatomegaly, Increa... OMIM:256550
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Timothy Syndrome
Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
46,Xy Sex Reversal 4
Hypoplastic labia majora, Hydronephrosis, Gonadal dysgenesis, Ureteropelvic junction obstruction,... OMIM:154230
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Renal hypoplasia, Atrial s... OMIM:601186
Perrault Syndrome 4
Premature ovarian insufficiency, Bicornuate uterus, Hypoplasia of the uterus, Hypoplasia of the o... OMIM:615300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hydronephrosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly,... OMIM:616897
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Micropenis, Ovarian cyst, Blind vagina, Amb... ORPHA:90793
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Oeis Complex
Rectovaginal fistula, Micropenis, Hydronephrosis, Cryptorchidism, Bladder exstrophy, Ambiguous ge... OMIM:258040
Refsum Disease, Classic
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Renal tubular acidosis, Hepatomegaly OMIM:255120
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Female external genitalia in individual with 46,XY karyotype, Cryptorchidi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Female external genitalia in individual with 46,XY karyotype, Cryptorchidi... ORPHA:289548
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Tubulointerstitial nephritis, Heavy prote... ORPHA:255249
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Horseshoe kidney, Abnormal cardiac septum morphology ORPHA:3320
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid ORPHA:42
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, female, Long penis, Precocious puberty in males, H... OMIM:202010
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Micropenis, Cryptorchidism, Azoospermia, Non-... ORPHA:432
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Hypoplastic left heart, Bicuspid aortic valve, Aortic valve at... ORPHA:1457
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced ... OMIM:201475
Beckwith-Wiedemann Syndrome
Enlarged kidney, Renal cortical cysts, Nephrocalcinosis, Nephrolithiasis, Cryptorchidism, Pancrea... OMIM:130650
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Testicular atrophy, Cardiomyopathy, Ca... ORPHA:465508
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ovotestis, Chordee, Histiocytoid cardiomyopathy, Micropenis, Atrial septal defe... OMIM:309801
Exstrophy-Epispadias Complex
Abnormality of the ureter, Horseshoe kidney, Bifid penis, Cryptorchidism, Renal hypoplasia, Bladd... ORPHA:322
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy ORPHA:391428
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Renal cyst, Unicornuate uterus, Ureteral atresi... OMIM:614527
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Hydronephrosis, Aplasia of the vagina, Absent external genitalia, Urethral... OMIM:271520
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Micropenis, Cryptorchidism, Male pseudohermaphrodit... ORPHA:90796
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Atrial septal defect, Muscular ventricular septal... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Cystic renal dysplasia, Tubulointerstitial nephritis, Red-brown u... ORPHA:228308
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Glycosuria, Renal cyst, Epididymal cyst, Nephrolithiasis, Decreased nu... OMIM:137920
Mogs-Cdg
Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, External ge... ORPHA:79330
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Proteinuria OMIM:618886
Sickle Cell Anemia
Hematuria, Splenomegaly, Hepatomegaly, Renal insufficiency, Cardiomegaly OMIM:603903
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Enlarged kidney, Ureteral duplication, Hydronephrosis, Hepatomegaly, Poly... OMIM:608836
Craniofaciofrontodigital Syndrome
Abnormal heart valve morphology, Atrial septal defect, Ventricular septal defect, Bicuspid aortic... ORPHA:363705
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Micropenis, Azoospermia, Atrial septal defect, Splenomegaly, Hepatomegaly, Pu... OMIM:602782
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Hypogonadotropic hypogonadism, Precocious puberty in females, Premature pu... ORPHA:90794
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Labial hypertrophy, Hepatomegaly, Precocious puberty, Ventricular septal defect, ... ORPHA:96191
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Fucosidosis
Cardiomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:349
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Abnormal cardiac a... ORPHA:1329
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:261740
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the fallopian tube, Premature ovarian in... OMIM:241080
Fucosidosis
Oligosacchariduria, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:230000
Sandhoff Disease
Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly OMIM:268800
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Micropenis, Cryptorchidism, Absent penis, Abnormal scrotal rugation, Ambig... ORPHA:284339
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hydronephrosis, Hepatomegaly, Ventricular septal defect, Cardiomegaly OMIM:614921
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy OMIM:619259
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Left atrial e... ORPHA:57777
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Okamoto Syndrome
Abnormal left ventricle morphology, Unilateral renal hypoplasia, Hydronephrosis, Abnormal mitral ... ORPHA:2729
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Cardiomegaly, Hepatomegaly OMIM:618143
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Tetralogy of Fallot, Horseshoe kidney, Hepatosplenomegaly, Atrial septal d... OMIM:274000
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hyp... ORPHA:308552
Cantú Syndrome
Cardiomegaly, Hypertrophic cardiomyopathy, Abnormal heart valve morphology ORPHA:1517
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:608013
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:232300
Histiocytoid Cardiomyopathy
Renal cyst, Polycystic ovaries, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:137675
Naxos Disease
Cardiomegaly, Right ventricular cardiomyopathy, Dilated cardiomyopathy, Abnormal morphology of ri... OMIM:601214
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Abnormal spermatogenesis, Hypoplasia of the fallopian tube,... ORPHA:3464
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Left ventricular... OMIM:245600
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly OMIM:252500
Townes-Brocks Syndrome 1
Rectovaginal fistula, Tetralogy of Fallot, Cryptorchidism, Renal hypoplasia, Atrial septal defect... OMIM:107480
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Mucopolysaccharidosis Type 3
Abnormal myocardium morphology, Abnormal mitral valve morphology, Urinary glycosaminoglycan excre... ORPHA:581
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:110100
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Cryptorchidism, Atrial septal defect, Left ... OMIM:300967
Beckwith-Wiedemann Syndrome
Enlarged kidney, Multiple renal cysts, Nephrolithiasis, Ureteral duplication, Hypercalciuria, Cry... ORPHA:116
Hydrolethalus Syndrome 1
Complete atrioventricular canal defect, Hydronephrosis, Abnormal vagina morphology, Bifid uterus,... OMIM:236680
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Coffin-Siris Syndrome 9
Hypoplasia of the uterus OMIM:615866
Congenital Tracheomalacia
Tetralogy of Fallot, Atrial septal defect, Partial anomalous pulmonary venous return, Abnormal he... ORPHA:95430
Absence Of The Pulmonary Artery
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Abnormal heart morphology, Trunc... ORPHA:980
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal defect, P... ORPHA:3384
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, ... ORPHA:1677
Williams Syndrome
Proteinuria, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Overriding aorta, Nephrocal... ORPHA:904
Yunis-Varon Syndrome
Hypoplastic labia majora, Tetralogy of Fallot, Micropenis, Cryptorchidism, Atrial septal defect, ... ORPHA:3472
Coffin-Siris Syndrome 1
Aplasia of the uterus, Ectopic kidney, Tetralogy of Fallot, Cryptorchidism, Hydronephrosis, Renal... OMIM:135900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy OMIM:618278
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Bohring-Opitz Syndrome
Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology ORPHA:97297
Aicardi-Goutières Syndrome
Micropenis, Cardiomegaly, Hypertrophic cardiomyopathy, Hepatosplenomegaly ORPHA:51
Neu-Laxova Syndrome 1
Patent foramen ovale, Cryptorchidism, Bifid uterus, Ventricular septal defect, Transposition of t... OMIM:256520
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Left ventricular hyp... ORPHA:365
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Uterine rupture, Mitral valve prolapse,... OMIM:130050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Atrial septal defect, Supracardiac total anomalous pulmonary venous connection, Mixed total anoma... ORPHA:99125
Abetalipoproteinemia
Cardiomegaly, Hepatomegaly ORPHA:14
Wolf-Hirschhorn Syndrome
Aplasia of the uterus, Cryptorchidism, Atrial septal defect, Precocious puberty, Ventricular sept... OMIM:194190
Proteasome-Associated Autoinflammatory Syndrome 1
Cardiomegaly, Epididymitis, Hepatomegaly, Splenomegaly OMIM:256040
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Rubinstein-Taybi Syndrome 1
Papillary cystadenoma of the epididymis, Cryptorchidism, Atrial septal defect, Shawl scrotum, Bif... OMIM:180849
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Myocardial calcification, Splenomegaly, Hepatomegaly, Restrictive cardi... ORPHA:75565
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... ORPHA:572333
Peters Plus Syndrome
Ureteral duplication, Cryptorchidism, Hydronephrosis, Clitoral hypoplasia, Bicuspid pulmonary val... ORPHA:709
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia of the uterus, Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypospadias OMIM:276820
Peters-Plus Syndrome
Hypoplastic labia majora, Hypoplasia of the vagina, Ureteral duplication, Cryptorchidism, Hydrone... OMIM:261540
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Vascular Ehlers-Danlos Syndrome
Bladder diverticulum, Abnormal heart valve morphology, Cryptorchidism, Uterine prolapse, Renovasc... ORPHA:286
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Myocardial calcification, Hyperphosphaturia, Medulla... ORPHA:51608
Pallister-Killian Syndrome
Hypoplastic labia majora, Renal cyst, Small scrotum, Aplasia of the uterus, Cryptorchidism, Atria... OMIM:601803
Singleton-Merten Syndrome 1
Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve calcification, Cardiomegaly... 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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dnah6em1(IMPC)Mbp Exon Deletion Mice, Tissue

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