Gene Summary

Name:
dynein axonemal intermediate chain 2
Synonyms:
C030015H18Rik,  Dnaic2,  b2b3405Clo

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
decreased lean body mass Dnai2em1(IMPC)Tcp HET Early adult 1.51×10-06
enlarged urinary bladder Dnai2em1(IMPC)Tcp HET Early adult 0.00
enlarged lymph nodes Dnai2em1(IMPC)Tcp HET Early adult 0.00
abnormal retina blood vessel morphology Dnai2em1(IMPC)Tcp HET   Early adult 2.18×10-05
abnormal retina vasculature morphology Dnai2em1(IMPC)Tcp HET   Early adult 2.26×10-05
increased total body fat amount Dnai2em1(IMPC)Tcp HET Early adult 2.34×10-06
preweaning lethality, incomplete penetrance Dnai2em1(IMPC)Tcp HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Eye Morphology

Images Ophthalmoscopy

96 Images

Eye Morphology

Images Slit Lamp

92 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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Human diseases caused by Dnai2 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 Dnai2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Situs inversus totalis OMIM:612444
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244

The table below shows human diseases predicted to be associated to Dnai2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mirror Movements 3
Situs inversus totalis OMIM:616059
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 3
Ciliary dyskinesia, Situs inversus totalis OMIM:608644
Ciliary Dyskinesia, Primary, 7
Ciliary dyskinesia, Situs inversus totalis, Abnormal ciliary motility, Dextrocardia OMIM:611884
Ciliary Dyskinesia, Primary, 24
Ciliary dyskinesia, Situs inversus totalis, Immotile cilia OMIM:615481
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Situs inversus totalis OMIM:615872
Ciliary Dyskinesia, Primary, 23
Ciliary dyskinesia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cl... OMIM:615451
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Ciliary Dyskinesia, Primary, 16
Ciliary dyskinesia, Situs inversus totalis, Abnormal ciliary motility OMIM:614017
Ciliary Dyskinesia, Primary, 10
Ciliary dyskinesia, Situs inversus totalis OMIM:612518
Ciliary Dyskinesia, Primary, 13
Ciliary dyskinesia, Situs inversus totalis, Immotile cilia OMIM:613193
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Ciliary dys... OMIM:614874
Ciliary Dyskinesia, Primary, 17
Ciliary dyskinesia, Situs inversus totalis, Dextrocardia OMIM:614679
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Ciliary Dyskinesia, Primary, 27
Ciliary dyskinesia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cl... OMIM:615504
Ciliary Dyskinesia, Primary, 40
Reduced respiratory ciliary beating frequency, Situs inversus totalis, Atrioventricular canal def... OMIM:618300
Ciliary Dyskinesia, Primary, 28
Ciliary dyskinesia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cl... OMIM:615505
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Ciliary Dyskinesia, Primary, 26
Ciliary dyskinesia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cl... OMIM:615500
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Situs inversus totalis, Immotile cilia OMIM:616481
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:616037
Ciliary Dyskinesia, Primary, 19
Ciliary dyskinesia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cl... OMIM:614935
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Immotile cilia OMIM:618063
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Ciliary Dyskinesia, Primary, 2
Ciliary dyskinesia, Situs inversus totalis, Dextrocardia, Immotile cilia OMIM:606763
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:615444
Ciliary Dyskinesia, Primary, 25
Ciliary dyskinesia, Situs inversus totalis, Dextrocardia, Immotile cilia OMIM:615482
Nephronophthisis 14
Situs inversus totalis OMIM:614844
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:614779
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Ciliary dyskinesia, Situs inversus totalis OMIM:620197
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Situs inversus totalis OMIM:612444
Ciliary Dyskinesia, Primary, 14
Ciliary dyskinesia, Situs inversus totalis, Abnormal ciliary motility, Heterotaxy OMIM:613807
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Situs inversus totalis OMIM:612650
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis OMIM:620032
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis OMIM:300991
Ciliary Dyskinesia, Primary, 5
Ciliary dyskinesia, Situs inversus totalis, Respiratory insufficiency due to defective ciliary cl... OMIM:608647
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia, Primary, 15
Ciliary dyskinesia, Situs inversus totalis OMIM:613808
Nephronophthisis 16
Pulmonic stenosis, Situs inversus totalis, Aortic valve stenosis, Hypertrophic cardiomyopathy OMIM:615382
Ciliary Dyskinesia, Primary, 35
Abdominal situs ambiguus, Situs inversus totalis OMIM:617092
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia OMIM:617577
Ciliary Dyskinesia, Primary, 6
Ciliary dyskinesia, Abnormal ciliary motility OMIM:610852
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Dextr... OMIM:605376
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia OMIM:619436
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Ciliary Dyskinesia, Primary, 51
Situs inversus totalis OMIM:620438
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect OMIM:619881
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Ciliary Dyskinesia, Primary, 21
Ciliary dyskinesia OMIM:615294
Ciliary Dyskinesia, Primary, 45
Immotile cilia OMIM:618801
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Respiratory insufficiency due to defective ciliary clearance, Dextrocardi... OMIM:615067
Ciliary Dyskinesia With Defective Radial Spokes
Ciliary dyskinesia, Immotile cilia OMIM:242670
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se... OMIM:620570
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect OMIM:619608
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Cardiomyopathy OMIM:249270
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Ciliary Dyskinesia, Primary, 11
Ciliary dyskinesia, Immotile cilia OMIM:612649
Ciliary Dyskinesia, Primary, 1
Ciliary dyskinesia, Situs inversus totalis, Immotile cilia OMIM:244400
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis OMIM:615434
Hypoglossia With Situs Inversus
Situs inversus totalis OMIM:612776
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia OMIM:616726
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency OMIM:617091
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse OMIM:609008
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Left Is... OMIM:619702
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Ciliary dyskinesia OMIM:225050
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect OMIM:202650
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Aorti... OMIM:615415
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... ORPHA:244
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Dextrocardia OMIM:613095
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Nephronophthisis 2
Situs inversus totalis OMIM:602088
Dextrocardia
Situs inversus totalis, Abnormality of abdominal situs, Abnormal heart morphology, Dextrocardia ORPHA:1666
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia OMIM:606217
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot ORPHA:1908
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis ORPHA:990
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia OMIM:613686
Meckel Syndrome, Type 7
Aortic valve stenosis, Situs inversus totalis, Atrial septal defect, Right ventricular hypertrophy OMIM:267010
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme... ORPHA:1330
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular... OMIM:607941
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,... ORPHA:216694
Joubert Syndrome
Situs inversus totalis ORPHA:475
Isolated Cleft Lip
Situs inversus totalis ORPHA:199302
Ellis Van Creveld Syndrome
Situs inversus totalis, Atrioventricular canal defect, Dextrocardia, Abnormal heart valve morphol... ORPHA:289
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Abse... OMIM:602450
Renpenning Syndrome
Heterotaxy ORPHA:3242
Marden-Walker Syndrome
Situs inversus totalis, Dextrocardia, Ventricular septal defect, Abnormal anatomic location of th... ORPHA:2461
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Situs inversus totalis, Atrial septal defect OMIM:208540
Double Outlet Right Ventricle
Heterotaxy, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventr... ORPHA:3426
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Meige Disease
Atypical scarring of skin, Cellulitis, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal defect, Pu... OMIM:619657
Pagod Syndrome
Situs inversus totalis, Hypoplastic left heart ORPHA:991
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia OMIM:314390
Renpenning Syndrome 1
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot OMIM:309500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Failure to thrive, Hepatomegaly, Lymph node hypoplasia, Absent tonsils ORPHA:276
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Retinal neovascularization, Retinal cotton wool spot, Proteinuria, Abnormal... ORPHA:247691
Carpenter Syndrome 2
Situs inversus totalis, Atrial septal defect, Transposition of the great arteries, Dextrocardia OMIM:614976
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous... OMIM:613751
Meckel Syndrome
Situs inversus totalis ORPHA:564
Purine Nucleoside Phosphorylase Deficiency
Elevated urinary inosine level, Decreased urinary urate, Elevated urinary guanosine level, Failur... OMIM:613179
Ring Chromosome 7 Syndrome
Situs inversus totalis ORPHA:1449
Biliary, Renal, Neurologic, And Skeletal Syndrome
Situs inversus totalis, Atrioventricular canal defect, Inlet ventricular septal defect, Dextrocar... OMIM:619534
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia,... OMIM:270100
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Johanson-Blizzard Syndrome
Situs inversus totalis, Dilated cardiomyopathy, Ventricular septal defect, Atrial septal defect OMIM:243800
Diets-Jongmans Syndrome
Ventricular septal defect, Heterotaxy OMIM:618846
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755

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 Dnai2

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 Dnai2.

No publications found that use IMPC mice or data for Dnai2.

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MGI Allele Allele Type Produced
Dnai2tm134(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dnai2em1(IMPC)Tcp Exon Deletion Mice

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