Gene Summary

Name:
dynein, axonemal, heavy chain 2
Synonyms:
D330014H01Rik,  Dnahc2,  2900022L05Rik,  Dnhd3

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 seminal vesicle morphology Dnah2em1(IMPC)Tcp HOM Early adult 0.00
male infertility Dnah2em1(IMPC)Tcp HOM Early adult 0.00
abnormal lymph node morphology Dnah2em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

70 Images

Gross Pathology and Tissue Collection

Images

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Histopathology

Images

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Dnah2 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 Dnah2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094

The table below shows human diseases predicted to be associated to Dnah2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism OMIM:261550
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Kerion Celsi
Lymphadenopathy ORPHA:499
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia OMIM:619126
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Follicular hyperplasia ORPHA:482
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Goiter, Nodular goiter, Abnormality of the lymph nodes ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Goiter, Nodular goiter, Abnormality of the lymph nodes ORPHA:319487
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Alpha-Heavy Chain Disease
Lymphadenopathy, Premature ovarian insufficiency, Splenomegaly ORPHA:100025
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Elevated circulating follicle stimulating hormone level, Urogenital sinus anomaly, M... ORPHA:251510
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes ORPHA:543
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Partial Androgen Insensitivity Syndrome
Hypospadias, Male sexual dysfunction, Aplasia of the uterus, Bifid scrotum, Fused labia majora, A... ORPHA:90797
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Generalized lymph... OMIM:615559
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Immunodeficiency 64
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... OMIM:618534
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Lymphadenopathy, Abnormality of the lymph nodes, Hypogonadism, Abnormal testis morp... ORPHA:85450
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:240500
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 72 With Autoinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Classic Galactosemia
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... ORPHA:79239
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:613101
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 27A
Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, Splenomegaly OMIM:209950
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Elevated circul... ORPHA:90793
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... ORPHA:8
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Roifman Syndrome
Lymphadenopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly ORPHA:353298
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Testicu... ORPHA:83469
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Tularemia
Lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervica... ORPHA:3392
Ciliary Dyskinesia, Primary, 14
Polysplenia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Immunodeficiency 54
Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly OMIM:609981
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Lymphatic Filariasis
Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic... ORPHA:2035
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Neoplasm of the thymus, Pituitary adenoma, Primary hyperparathyroidi... ORPHA:97289
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Cervical lymphadenopathy, Asplenia OMIM:614034
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Abnormality of the lymph nodes ORPHA:911
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Omenn Syndrome
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Medullary Thyroid Carcinoma
Lymphadenopathy, Primary hyperparathyroidism, Nodular goiter, Pheochromocytoma ORPHA:1332
Aromatase Deficiency
Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ... ORPHA:91
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:3226
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Nodular goiter, Goiter ORPHA:142
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Lig4 Syndrome
Lymphadenopathy, Cryptorchidism, Hypoplasia of penis ORPHA:99812
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Recurrent tonsillitis OMIM:618935
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Griscelli Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:381
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Immunodeficiency 10
Lymphadenopathy OMIM:612783
H Syndrome
Amenorrhea, Azoospermia, Lymphadenopathy, Hypogonadism, Hepatosplenomegaly, Micropenis, Decreased... ORPHA:168569
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Primary Myelofibrosis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Aggressive Systemic Mastocytosis
Lymphadenopathy, Hepatosplenomegaly, Hypersplenism ORPHA:98850
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Felty Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:47612
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Azoospermia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Micropenis... OMIM:602782
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Poems Syndrome
Hypogonadism, Erectile dysfunction, Lymphadenopathy, Increased circulating prolactin concentration ORPHA:2905
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Legionnaires Disease
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:549
Nephroblastoma
Lymphadenopathy ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatosplenomegaly, Enlarged tonsils OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Castleman Disease
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Prostatitis, Lymphadenopathy, Abnormal pancreas morphology, A... ORPHA:449432
Acute Promyelocytic Leukemia
Lymphadenopathy, Metrorrhagia ORPHA:520
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Mevalonic Aciduria
Lymphadenopathy, Hepatosplenomegaly, Fluctuating splenomegaly OMIM:610377
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Pancreatoblastoma
Pancreatic calcification, Abnormality of the lymph nodes ORPHA:677
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma, Pancreatic adenocarcinoma ORPHA:1333
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:603553
Kikuchi-Fujimoto Disease
Lymphadenopathy, Abnormality of the lymph nodes, Splenomegaly, Generalized lymphadenopathy, Enlar... ORPHA:50918
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Malakoplakia
Orchitis, Abnormality of the menstrual cycle, Prostate neoplasm, Follicular hyperplasia ORPHA:556
Hyper-Igd Syndrome
Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:260920
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Abnormality of... ORPHA:228123
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Splenomegaly, Accessory spleen, Primary amenorrhea, Polysplenia OMIM:619418
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Carney Triad
Lymphadenopathy, Pheochromocytoma, Mediastinal lymphadenopathy ORPHA:139411
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Autoimmune Lymphoproliferative Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hypersplenism, Chronic noninfectious ... ORPHA:3261
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Bloom Syndrome
Oligospermia, Azoospermia, Male infertility, Premature ovarian insufficiency, Recurrent tonsillitis ORPHA:125
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Orchitis, Splenomegaly ORPHA:32960
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233710
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Selective Igm Deficiency
Lymphadenopathy, Lymphadenitis ORPHA:331235
Familial Mediterranean Fever
Lymphadenopathy, Orchitis, Splenomegaly ORPHA:342
Lymphangioleiomyomatosis
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal mo... ORPHA:538
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:306400
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Sialadenitis, Orchitis, Enla... ORPHA:449563
Brucellosis
Lymphadenopathy, Epididymitis, Spontaneous abortion, Splenomegaly, Hypersplenism, Orchitis ORPHA:1304
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Lymphadenitis, Urethritis, S... ORPHA:449395
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphadenopathy, Hepatosplenomegaly, Bone marrow hypocellularity, Splenomegaly OMIM:615688
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Neoplasm of the thymus, Pa... ORPHA:99889
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Pulmonary lymphangiectasia, Splenomegaly ORPHA:2136
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Epididymitis, Parotitis, Splenomegaly, Elevated circulating thyroid-stimulating ... OMIM:256040
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatosplenomegaly, Cervical lymphade... ORPHA:2442
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Lymphadenopathy, Nodular goiter, Abnormality of the submandib... ORPHA:79078
Behçet Disease
Lymphadenopathy, Orchitis, Splenomegaly ORPHA:117
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
African Trypanosomiasis
Abnormal prolactin level, Infertility, Lymphadenopathy, Abnormality of the menstrual cycle, Spont... ORPHA:3385
Duodenal Neuroendocrine Tumor
Lymphadenopathy, Elevated circulating growth hormone concentration, Insulinoma ORPHA:100076
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Epididymitis, Parotitis, Splenomegaly, Orchitis ORPHA:99827
Cystinosis, Nephropathic
Male hypogonadism, Male infertility, Splenomegaly OMIM:219800
Sarcoidosis
Lymphadenopathy, Abnormal reproductive system morphology, Abnormality of the lymph nodes, Parotit... ORPHA:797
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Primary Sjögren Syndrome
Lymphadenopathy, Vaginal dryness, Parotitis ORPHA:289390
Marburg Hemorrhagic Fever
Lymphadenopathy, Orchitis ORPHA:99826
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Male infertility, Hypospadias OMIM:163950
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Cystic Fibrosis
Hepatosplenomegaly, Male infertility OMIM:219700
Blau Syndrome
Lymphadenopathy, Abnormal salivary gland morphology, Splenomegaly ORPHA:90340
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Anoperineal fistula, Follicular hyperplasia, Splenomegaly OMIM:619381
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Leptospirosis
Lymphadenopathy ORPHA:509

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.

Phenotype Allele Zygosity Sex Life Stage
Brain - MPATH pathological entity term hydrocephalus Dnah2em1(IMPC)Tcp HOM Early adult
Nasal cavity - MPATH pathological process term rhinitis Dnah2em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological entity term germ cell defect Dnah2em1(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term hypospermia Dnah2em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Dnah2em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term hypospermia Dnah2em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Dnah2em1(IMPC)Tcp HOM Early adult
Nasal cavity - MPATH pathological process term sinusitis Dnah2em1(IMPC)Tcp HOM Early adult

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 Dnah2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice. Frontiers in cell and developmental biology (April 2021) Dnah2em1(IMPC)Tcp PMC8103034

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dnah2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnah2tm319(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dnah2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dnah2em1(IMPC)Tcp Exon Deletion Mice, Tissue

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