Manteia - Molecule gene

ENSMUSG00000022262

Mus musculus

Features

Gene ID:	ENSMUSG00000022262

Biological name :	Dnah5

Synonyms :	Dnah5 / Dynein heavy chain 5, axonemal / Q8VHE6

Possible biological names infered from orthology :

Species:	Mus musculus

Chr. number:	15
Strand:	1
Band:	B1
Gene start:	28203752
Gene end:	28472052

Corresponding Affymetrix probe sets:	10423388 (MoGene1.0st) 1421434_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000069751 NCBI entrez gene - 110082 See in Manteia. MGI - MGI:107718 RefSeq - NM_133365 RefSeq - XM_006520014 RefSeq Peptide - NP_579943 swissprot - Q8VHE6 Ensembl - ENSMUSG00000022262

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
dnah5	ENSDARG00000087373	Danio rerio

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Dnah8 / Q91XQ0 / Dynein heavy chain 8, axonemal / Q96JB1* / dynein axonemal heavy chain 8*	ENSMUSG00000033826	61
Dnah10	ENSMUSG00000038011	30
Dnah2 / P0C6F1 / Dynein heavy chain 2, axonemal / Q9P225* / dynein axonemal heavy chain 2*	ENSMUSG00000005237	29
Dnah17 / dynein axonemal heavy chain 17 / Q9UFH2*	ENSMUSG00000033987	29
Dnah11 / dynein axonemal heavy chain 11 / Q96DT5*	ENSMUSG00000018581	28
Dnah1 / E9Q8T7 / Dynein heavy chain 1, axonemal / Q9P2D7* / dynein axonemal heavy chain 1*	ENSMUSG00000019027	26
Dnah6 / dynein axonemal heavy chain 6 / Q9C0G6*	ENSMUSG00000052861	25
Dnah12	ENSMUSG00000021879	25
Dnah7a / DNAH7* / Q8WXX0* / dynein axonemal heavy chain 7*	ENSMUSG00000096141	25
Dnah7c / DNAH7* / Q8WXX0* / dynein axonemal heavy chain 7*	ENSMUSG00000101337	25
Dnah3 / Q8BW94 / Dynein heavy chain 3, axonemal	ENSMUSG00000052273	25
Q9JHU4 / Dync1h1 / Cytoplasmic dynein 1 heavy chain 1 / Q14204* / dynein cytoplasmic 1 heavy chain 1*	ENSMUSG00000018707	23
Dnah14 / Q0VDD8* / dynein axonemal heavy chain 14*	ENSMUSG00000047369	22

Protein motifs (from Interpro)

Interpro ID	Name
IPR003593	AAA+ ATPase domain
IPR004273	Dynein heavy chain domain
IPR011704	ATPase, dynein-related, AAA domain
IPR013594	Dynein heavy chain, domain-1
IPR013602	Dynein heavy chain, domain-2
IPR024317	Dynein heavy chain, AAA module D4
IPR024743	Dynein heavy chain, coiled coil stalk
IPR026983	Dynein heavy chain
IPR027417	P-loop containing nucleoside triphosphate hydrolase
IPR035699	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1
IPR035706	Dynein heavy chain, ATP-binding dynein motor region D5

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0003341	cilium movement	ISO
biological_process	GO:0007018	microtubule-based movement	IEA
biological_process	GO:0007368	determination of left/right symmetry	ISO
biological_process	GO:0007507	heart development	IMP
biological_process	GO:0021670	lateral ventricle development	IMP
biological_process	GO:0030317	flagellated sperm motility	ISO
biological_process	GO:0036158	outer dynein arm assembly	ISO
biological_process	GO:0060271	cilium assembly	ISO
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005856	cytoskeleton	IEA
cellular_component	GO:0005858	axonemal dynein complex	IMP
cellular_component	GO:0005874	microtubule	IEA
cellular_component	GO:0005929	cilium	IEA
cellular_component	GO:0005930	axoneme	ISO
cellular_component	GO:0030286	dynein complex	IEA
cellular_component	GO:0036157	outer dynein arm	ISO
cellular_component	GO:0042995	cell projection	IEA
molecular_function	GO:0000166	nucleotide binding	IEA
molecular_function	GO:0003774	motor activity	IEA
molecular_function	GO:0003777	microtubule motor activity	IMP
molecular_function	GO:0005524	ATP binding	IEA
molecular_function	GO:0008569	ATP-dependent microtubule motor activity, minus-end-directed	IBA
molecular_function	GO:0016887	ATPase activity	IEA
molecular_function	GO:0045503	dynein light chain binding	IBA
molecular_function	GO:0045505	dynein intermediate chain binding	IBA
molecular_function	GO:0051959	dynein light intermediate chain binding	IBA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000266	abnormal cardiac morphology	"anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Lrp5^{Gt(OST164883)Lex}/Lrp5^{Gt(OST164883)Lex} Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000267	abnormal cardiac development	"aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]	Show Allelic Composition: Lrp5^{Gt(OST164883)Lex}/Lrp5^{Gt(OST164883)Lex} Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000276	right ventricle hypertrophy	"increased size of the right ventricle" [J:33629]	Show Allelic Composition: Ptk7^b2b2445Clo/Ptk7^b2b2445Clo Genetic Background: C57BL/6J-Ptk7^b2b2445Clo
MP:0000284	double outlet right ventricle	"both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo
MP:0000297	abnormal endocardial cushion morphology	"malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo
MP:0000432	abnormal head morphology	"anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Lrp5^{Gt(OST164883)Lex}/Lrp5^{Gt(OST164883)Lex} Genetic Background: involves: 129S5/SvEvBrd * C57BL/6
MP:0000439	enlarged skull		Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0000440	domed skull		Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0000445	short snout	"reduced length of the anterior facial part of the muzzle" [J:53370]	Show Allelic Composition: Ptk7^b2b2445Clo/Ptk7^b2b2445Clo Genetic Background: C57BL/6J-Ptk7^b2b2445Clo
MP:0000519	hydronephrosis	"dilation of the pelvis and calices of one or both kidneys" [J:56641]	Show Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo
MP:0000598	abnormal liver morphology	"malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]	Show Allelic Composition: Lrp5^{Gt(OST164883)Lex}/Lrp5^{Gt(OST164883)Lex} Genetic Background: involves: 129S5/SvEvBrd * C57BL/6 Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo
MP:0000644	dextrocardia	"cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo Allelic Composition: Dnah5^b2b1537Clo/Dnah5^b2b1537Clo Genetic Background: C57BL/6J-Dnah5^b2b1537Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo Allelic Composition: Dnah5^b2b2570Clo/Dnah5^b2b2570Clo Genetic Background: C57BL/6J-Dnah5^b2b2570Clo Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo Allelic Composition: Dnah5^b2b3491Clo/Dnah5^b2b3491Clo Genetic Background: C57BL/6J-Dnah5^b2b3491Clo
MP:0000650	mesocardia	"cardiac apex pointing to the middle as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0000689	abnormal spleen morphology	"atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]	Show Allelic Composition: Lrp5^{Gt(OST164883)Lex}/Lrp5^{Gt(OST164883)Lex} Genetic Background: involves: 129S5/SvEvBrd * C57BL/6 Allelic Composition: Dnah5^b2b2451Clo/Dnah5^b2b2451Clo Genetic Background: C57BL/6J-Dnah5^b2b2451Clo
MP:0000690	absent spleen	"missing organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:55583]	Show Allelic Composition: Lrp5^{Gt(OST164883)Lex}/Lrp5^{Gt(OST164883)Lex} Genetic Background: involves: 129S5/SvEvBrd * C57BL/6 Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0001406	abnormal gait	"unusual or distinctive way of walking" [J:65038]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0001544	abnormal cardiovascular system physiology	"anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Cigs2^tm1.1Anse/Cigs2⁺,Il4^tm1(CD2)Mmrs/Il4⁺ Genetic Background: involves: 129 * BALB/cJ * C57BL/6 Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo
MP:0001732	postnatal growth retardation	"slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0001850	otitis media	"middle ear inflammation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60896]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0001872	sinus inflammation	"increase in susceptibility of the hollow cavities in bone (usually but not exclusively those in the skull) to allergens and/or pathogens" [MGI:tc, J:60896]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0001891	hydroencephaly	"excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0001944	abnormal pancreas morphology	"malformation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [il:Ira Lu , Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^b2b2451Clo/Dnah5^b2b2451Clo Genetic Background: C57BL/6J-Dnah5^b2b2451Clo
MP:0001954	respiratory distress	"physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0001963	abnormal hearing	"anomaly in the ability to receive auditory stimuli" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0002082	postnatal lethality	"premature death anytime after postnatal day 1 to weaning age (3 weeks)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0002135	abnormal kidney morphology	"abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Myo5a^d/Myo5a^d-89H Genetic Background: involves: 101/H * C3H/HeH
MP:0002625	left ventricle hypertrophy	"increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Ptk7^b2b2445Clo/Ptk7^b2b2445Clo Genetic Background: C57BL/6J-Ptk7^b2b2445Clo
MP:0002639	micrognathia	"abnormally reduced size of the jaws, especially of the mandible" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Ptk7^b2b2445Clo/Ptk7^b2b2445Clo Genetic Background: C57BL/6J-Ptk7^b2b2445Clo
MP:0002766	situs inversus	"lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0003178	left pulmonary isomerism	"bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0003283	abnormal digestive organ placement	"different location or arrangement of any of the alimentary tract organs" [ncbi:Matthew Mailman, NCBI request]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0003446	renal hypoplasia	"decreased cell number in the kidney leading to reduced size" [llw2:Linda Washburn , Mouse Genome Informatics Curator]	Show Allelic Composition: Myo5a^d/Myo5a^d-89H Genetic Background: involves: 101/H * C3H/HeH
MP:0003675	kidney cysts	"abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Myo5a^d/Myo5a^d-89H Genetic Background: involves: 101/H * C3H/HeH
MP:0004017	duplex kidney	"a kidney that is split into two separate collecting systems; there may be a duplex ureter or a single ureter; may present unilaterally or bilaterally" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo Allelic Composition: Dnah5^b2b1003Clo/Dnah5^b2b1003Clo Genetic Background: C57BL/6J-Dnah5^b2b1003Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo
MP:0004110	transposition of great arteries	"cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0004113	abnormal aortic arch morphology	"structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0004133	heterotaxia	"abnormal arrangement of organs or parts of the body in relation to each other" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b1134Clo/Dnah5^b2b1134Clo Genetic Background: C57BL/6J-Dnah5^b2b1134Clo Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo Allelic Composition: Dnah5^b2b1537Clo/Dnah5^b2b1537Clo Genetic Background: C57BL/6J-Dnah5^b2b1537Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo Allelic Composition: Dnah5^b2b2451Clo/Dnah5^b2b2451Clo Genetic Background: C57BL/6J-Dnah5^b2b2451Clo Allelic Composition: Dnah5^b2b3491Clo/Dnah5^b2b3491Clo Genetic Background: C57BL/6J-Dnah5^b2b3491Clo
MP:0004157	interrupted aortic arch	"complete discontinuation/blockage between the ascending and descending aorta; includes Type A, interruption distal to the subclavian artery that is ipsilateral to the second carotid artery, and Type B, interruption between second carotid artery and ipsilateral subclavian artery" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0004158	right aortic arch	"the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo
MP:0006061	right atrial isomerism	"altered asymmetric patterning of the atria" [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo
MP:0006063	abnormal inferior vena cava morphology	"structural malformation in the principal vein draining blood from the lower portion of the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo Allelic Composition: Dnah5^b2b1537Clo/Dnah5^b2b1537Clo Genetic Background: C57BL/6J-Dnah5^b2b1537Clo Allelic Composition: Dnah5^b2b2451Clo/Dnah5^b2b2451Clo Genetic Background: C57BL/6J-Dnah5^b2b2451Clo
MP:0006254	thin cerebral cortex	"decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0008461	left atrial isomerism	"anomaly in the asymmetry of the cardiac atria such that atria on both the left and right side have the morphology normally seen on the left side of the body" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0008535	enlarged lateral ventricles	"increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J
MP:0009705	abnormal midgut morphology	"any structural anomaly of the portion of the embryonic gut between the foregut and the hindgut, which originally is open to the yolk sac" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^b2b2451Clo/Dnah5^b2b2451Clo Genetic Background: C57BL/6J-Dnah5^b2b2451Clo
MP:0010402	ventricular septal defect	"abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0010405	ostium secundum atrial septal defect	"large interatrial communication (atrial septal defect) through the center of the wall between the atria at the site of the foramen ovale and the ostium secundum" [http://emedicine.medscape.com, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0010406	absent atrial septum	"absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0010412	atrioventricular septal defect	"defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo
MP:0010413	complete atrioventricular septal defect	"a type of atrioventricular septal defect in which a single atrioventricular valve annulus, a common atrioventricular valve, and a defect of the inlet ventricular septum are observed; deficiency of the atrioventricular septum also results in the presence of a large primum atrial septal defect" [http://emedicine.medscape.com]	Show Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo
MP:0010422	heart right ventricle hypoplasia	"underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0010435	abnormal heart atrium and ventricle connection	"any anomaly in the in the position or pattern of the connection site of the heart atrium to the ventricles, usually occurring through the atrioventricular valves" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo
MP:0010440	anomalous pulmonary venous connection	"abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery" [http://emedicine.medscape.com]	Show Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo
MP:0010441	total anomalous pulmonary venous connection	"abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery; in TAPVC, none of the four pulmonary veins are attached to the left atrium" [http://emedicine.medscape.com]	Show Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0010460	pulmonary artery hypoplasia	"underdevelopment or reduced size of the artery that arises from the right ventricle and conveys unaerated blood to the lungs, usually due to reduced cell number" [MESH:A07.231.114.715]	Show Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo
MP:0010466	vascular ring	"the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches" [http://emedicine.medscape.com]	Show Allelic Composition: Dnah5^b2b2570Clo/Dnah5^b2b2570Clo Genetic Background: C57BL/6J-Dnah5^b2b2570Clo
MP:0010487	abnormal right subclavian artery morphology	"any structural anomaly of the artery that normally extends from the brachiocephalic artery to the right side of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0010607	common atrioventricular valve	"the presence of a single atrioventricular valve instead of both a mitral and tricuspid valve, most commonly due to incomplete or failure of fetal atrioventricular canal septation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo
MP:0010808	right-sided stomach	"stomach is present on the right side of the body instead of the left" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo
MP:0010854	lung situs inversus	"anomaly in the asymmetry of the lung such that lung lobes on both the left and right side have the morphology normally seen on the opposite side of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo
MP:0011050	abnormal respiratory motile cilium morphology	"any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract" [GO:0031514, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^hlb612/Dnah5⁺ Genetic Background: involves: C57BL/6J
MP:0011055	abnormal respiratory motile cilium physiology	"any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract; may include alterations in ciliary beating pattern or frequency" [GO:0031514, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo
MP:0011083	complete lethality at weaning	"premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food" [MGI:csmith]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0011090	partial perinatal lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J
MP:0011110	partial preweaning lethality	"the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]	Show Allelic Composition: Dbn1^{tm1b(KOMP)Wtsi}/Dbn1⁺ Genetic Background: C57BL/6N-Dbn1^{tm1b(KOMP)Wtsi}/Bay
MP:0011249	abdominal situs inversus	"lateral transposition or mirroring of the viscera of the abdomen, sometimes incomplete, with all organs maintaining the normal relative position with respect to each other" [MGI:csmith]	Show Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo Allelic Composition: Dnah5^b2b2570Clo/Dnah5^b2b2570Clo Genetic Background: C57BL/6J-Dnah5^b2b2570Clo Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0011250	abdominal situs ambiguus	"an abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements" [MGI:csmith, PMID:18039396]	Show Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b1003Clo/Dnah5^b2b1003Clo Genetic Background: C57BL/6J-Dnah5^b2b1003Clo Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo Allelic Composition: Dnah5^b2b2451Clo/Dnah5^b2b2451Clo Genetic Background: C57BL/6J-Dnah5^b2b2451Clo Allelic Composition: Dnah5^b2b3491Clo/Dnah5^b2b3491Clo Genetic Background: C57BL/6J-Dnah5^b2b3491Clo
MP:0011252	situs inversus totalis	"the complete right to left reversal (transposition) of the thoracic and abdominal organs, including the heart (dextrocardia)" [MGI:csmith]	Show Allelic Composition: Dnah5^b2b016Clo/Dnah5^b2b016Clo Genetic Background: C57BL/6J-Dnah5^b2b016Clo Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b1003Clo/Dnah5^b2b1003Clo Genetic Background: C57BL/6J-Dnah5^b2b1003Clo Allelic Composition: Dnah5^b2b1134Clo/Dnah5^b2b1134Clo Genetic Background: C57BL/6J-Dnah5^b2b1134Clo Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo Allelic Composition: Dnah5^b2b1565Clo/Dnah5^b2b1565Clo Genetic Background: C57BL/6J-Dnah5^b2b1565Clo Allelic Composition: Dnah5^b2b1537Clo/Dnah5^b2b1537Clo Genetic Background: C57BL/6J-Dnah5^b2b1537Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo Allelic Composition: Dnah5^b2b2570Clo/Dnah5^b2b2570Clo Genetic Background: C57BL/6J-Dnah5^b2b2570Clo Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0011253	situs inversus with levocardia	"situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia" [ISBN:0-683-40008-8, MGI:csmith]	Show Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo
MP:0011254	superior-inferior ventricles	"an abnormality in which the heart ventricles are in a superior-inferior relationship due to abnormal displacement of the ventricular mass along the horizontal plane of its long axis; this frequently occurs together with criss-cross atrio-ventricular relationships" [ISBN:0-683-40008-8, MGI:csmith]	Show Allelic Composition: Dnah5^hlb612/Dnah5^hlb612 Genetic Background: involves: C57BL/6J Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo
MP:0011510	biventricular, discordant atrioventricular connection		Show Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo
MP:0011511	biventricular, ambiguous atrioventricular connection		Show Allelic Composition: Dnah5^b2b002Clo/Dnah5^b2b002Clo Genetic Background: C57BL/6J-Dnah5^b2b002Clo
MP:0011649	immotile respiratory cilia	"failure of the multiple epithelial tiny, motile hair-like projections of the repiratory tract epithelium to beat with a characteristic whip-like pattern in order to promote transport of fluids and other cells across the epithelium of the respiratory tract" [MGI:csmith]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b1003Clo/Dnah5^b2b1003Clo Genetic Background: C57BL/6J-Dnah5^b2b1003Clo Allelic Composition: Dnah5^b2b1134Clo/Dnah5^b2b1134Clo Genetic Background: C57BL/6J-Dnah5^b2b1134Clo Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo Allelic Composition: Dnah5^b2b1565Clo/Dnah5^b2b1565Clo Genetic Background: C57BL/6J-Dnah5^b2b1565Clo Allelic Composition: Dnah5^b2b1537Clo/Dnah5^b2b1537Clo Genetic Background: C57BL/6J-Dnah5^b2b1537Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo
MP:0011667	double outlet right ventricle with atrioventricular septal defect	"a form of DORV in which there is also a complete atrioventricular canal" [MGI:csmith]	Show Allelic Composition: Dnah5^b2b601Clo/Dnah5^b2b601Clo Genetic Background: C57BL/6J-Dnah5^b2b601Clo Allelic Composition: Dnah5^b2b1154Clo/Dnah5^b2b1154Clo Genetic Background: C57BL/6J-Dnah5^b2b1154Clo Allelic Composition: Dnah5^b2b2925Clo/Dnah5^b2b2925Clo Genetic Background: C57BL/6J-Dnah5^b2b2925Clo
MP:0011683	dual inferior vena cava	"presence of two inferior vena cavae, often resulting from the persistence of both supracardinal veins during development; the two structures may be symmetric or asymmetric but typically join together at the renal vein" [MGI:csmith, PMID:10835118]	Show Allelic Composition: Dnah5^b2b1537Clo/Dnah5^b2b1537Clo Genetic Background: C57BL/6J-Dnah5^b2b1537Clo Allelic Composition: Dnah5^b2b2395Clo/Dnah5^b2b2395Clo Genetic Background: C57BL/6J-Dnah5^b2b2395Clo
MP:0014185	cerebellum atrophy	"acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:Anna]	Show Allelic Composition: Myo5a^d-n2J/Myo5a^d-n2J Genetic Background: involves: C57BL/6J * DBA/2J

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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