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Gene: Dnah1 MGI:107721

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Gene Summary

Name:
dynein, axonemal, heavy chain 1
Synonyms:
MDHC7,  E030034C22Rik,  B230373P09Rik,  Dnahc1

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 coat appearance Dnah1tm1b(EUCOMM)Hmgu HOM Early adult 1.80×10-06
abnormal skin coloration Dnah1tm1b(EUCOMM)Hmgu HOM Early adult 7.25×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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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, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Female in... ORPHA:244
Ciliary Dyskinesia, Primary, 37
Infertility, Wheezing, Bronchiectasis, Rhinorrhea, Chronic rhinitis 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 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
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
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Ciliary Dyskinesia, Primary, 41
Infertility, Impaired nasal mucociliary clearance, Bronchiectasis, Immotile sperm, Recurrent sinu... OMIM:618449
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 1
Infertility OMIM:615774
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
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent sinusitis, Immotile sper... OMIM:617091
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Immotile sperm, Respiratory i... OMIM:614874
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neo... OMIM:615500
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis,... OMIM:613807
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Pneumonia, Chronic rhinitis, Male... OMIM:612444
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Male infertility, Chronic rhinitis, Bronchiectasis OMIM:618801
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Ciliary dyskinesia, Immotile sperm, Sinusitis, Immotile c... OMIM:242670
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Immotile sperm, Chronic rhinitis, Chronic sinusitis OMIM:612650
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Infertility, Wheezing, Bronchiectasis, Ciliary dyskinesia, Cough, Immotile spe... OMIM:613808
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:612649
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhi... OMIM:614935
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhi... OMIM:615444
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Recurrent pneumonia OMIM:602271
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Familial Male-Limited Precocious Puberty
Male infertility, Oligospermia ORPHA:3000
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Abnormal sperm morphology, Reduced sperm motility, Abnormal sperm head morphology ORPHA:320391
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Productive cough, Atelectasis, Neonatal respiratory distress, Female in... ORPHA:244
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Pneumonia, Chronic rhinitis, Sinusitis, Im... OMIM:244400
Ciliary Dyskinesia, Primary, 37
Infertility, Wheezing, Bronchiectasis, Rhinorrhea, Chronic rhinitis OMIM:617577
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Classic Galactosemia
Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary amenorrhea, Male in... ORPHA:79239
47,Xyy Syndrome
Male infertility, Azoospermia, Asthma, Oligospermia ORPHA:8
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Chronic lung disease, Decreased forced expiratory flow 25-75... OMIM:219700
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Male infertility, Azoospermia, Primary amenorrhea ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Irregular menstruation, Primary amenorrhea, Decreased fertility, Male infertility ORPHA:90793
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Aromatase Deficiency
Hypergonadotropic hypogonadism, Female infertility, Male infertility, Primary amenorrhea ORPHA:91
Bloom Syndrome
Chronic pulmonary obstruction, Azoospermia, Oligospermia, Pneumonia, Respiratory failure, Rhiniti... ORPHA:125
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Male infertility OMIM:227650
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Azoospermia, Hypergonadotropic hypogonadism, Streak ovary, Primar... ORPHA:251510
Renal Cysts And Diabetes Syndrome
Reduced sperm motility OMIM:137920
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Azoospermia, Streak ovary, Chordee ORPHA:1772
Cystinosis, Nephropathic
Male infertility, Male hypogonadism OMIM:219800
Noonan Syndrome 1
Hypogonadism, Male infertility, Chylothorax 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 PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Dnah17tm1e(KOMP)Wtsi