Gene Summary

Name:
dynein, axonemal, heavy chain 1
Synonyms:
B230373P09Rik,  ferf1,  MDHC7,  Dnahc1,  E030034C22Rik,  G1-415-19

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 coat appearance Dnah1tm1b(EUCOMM)Hmgu HOM Early adult 1.58×10-06
abnormal skin coloration Dnah1tm1b(EUCOMM)Hmgu HOM Early adult 5.81×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Dnah1 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.

The table below shows human diseases associated to Dnah1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Primary Ciliary Dyskinesia
Airway obstruction, Female infertility, Wheezing, Chronic rhinitis, Male infertility, Chronic sin... ORPHA:244
Ciliary Dyskinesia, Primary, 37
Infertility OMIM:617577

The table below shows human diseases predicted to be associated to Dnah1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619689
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Neurofibromatosis Type 6
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619528
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 71
Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Endometriosis, Susceptibility To, 1
Endometriosis, Dysmenorrhea, Decreased fertility OMIM:131200
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility ORPHA:1646
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Male infertility, Abnormal sperm hea... OMIM:618433
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Isochromosomy Yp
Azoospermia, Male infertility ORPHA:98797
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Isochromosomy Yq
Azoospermia, Male infertility ORPHA:98798
Osteomesopyknosis
Infertility OMIM:166450
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Hyperprolactinemia
Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... OMIM:619436
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Immotile sperm, Chronic rhinitis, Recurrent sinusitis, Male infertility, Reduced ... OMIM:617091
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Respiratory insuffi... OMIM:614874
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility OMIM:277180
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Chronic rhinitis, Ciliary ... OMIM:612650
Ciliary Dyskinesia, Primary, 26
Infertility, Respiratory insufficiency due to defective ciliary clearance, Reduced sperm motility... OMIM:615500
Familial Male-Limited Precocious Puberty
Oligospermia, Male infertility ORPHA:3000
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Immotile sperm, Reduced sperm motility, Cough, Wheezing, Male infertility, Ciliar... OMIM:613807
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Decreased fertility ORPHA:481
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respi... OMIM:612649
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Immotile sperm, Chronic rhinitis, Ciliary dyskinesia, Abnormal respiratory system phys... OMIM:242670
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Wheezing, Cough, Chronic sinusitis, Recurrent pneumonia, Ciliary dys... OMIM:613808
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ciliary Dyskinesia, Primary, 9
Cough, Chronic rhinitis, Recurrent sinusitis, Male infertility, Chronic sinusitis, Ciliary dyskin... OMIM:612444
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Abnormal sperm head morphology, Abnormal sperm morphology, Reduced sperm motility ORPHA:320391
Ciliary Dyskinesia, Primary, 22
Infertility, Respiratory insufficiency due to defective ciliary clearance, Reduced sperm motility... OMIM:615444
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Reduced sperm motility, Chronic rhi... OMIM:608647
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ring Chromosome Y Syndrome
Female infertility, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism, ... ORPHA:261529
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Primary Ciliary Dyskinesia
Airway obstruction, Female infertility, Wheezing, Chronic rhinitis, Male infertility, Chronic sin... ORPHA:244
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
47,Xyy Syndrome
Azoospermia, Oligospermia, Male infertility ORPHA:8
Ciliary Dyskinesia, Primary, 37
Infertility OMIM:617577
Complete Androgen Insensitivity Syndrome
Primary amenorrhea, Male infertility ORPHA:99429
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Partial Androgen Insensitivity Syndrome
Azoospermia, Primary amenorrhea, Male sexual dysfunction, Male infertility ORPHA:90797
Aromatase Deficiency
Hypergonadotropic hypogonadism, Female infertility, Primary amenorrhea, Male infertility ORPHA:91
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Male infertility, Male hypogonadism, Decreased fertility ORPHA:90793
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism ORPHA:85450
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Male infertility OMIM:227650
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased fertility in females,... ORPHA:251510
Renal Cysts And Diabetes Syndrome
Reduced sperm motility OMIM:137920
Bloom Syndrome
Male infertility, Azoospermia, Oligospermia, Premature ovarian insufficiency ORPHA:125
Cystic Fibrosis
Reduced forced expiratory volume in one second, Asthma, Chronic lung disease, Decreased forced ex... OMIM:219700
Carney Complex
Oligospermia, Decreased fertility in males, Abnormal sperm motility ORPHA:1359
45,X/46,Xy Mixed Gonadal Dysgenesis
Chordee, Male infertility, Azoospermia, Streak ovary ORPHA:1772
Cystinosis, Nephropathic
Male infertility, Male hypogonadism OMIM:219800
Noonan Syndrome 1
Male infertility, Hypogonadism OMIM:163950

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 Dnah1

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 Dnah1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dnah17tm1e(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Dnah17tm1e(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dnah17tm1e(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dnah17tm1e(KOMP)Wtsi