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Chemically induced Allele Detail
Symbol: Dnah11b2b1727Clo
Name: dynein, axonemal, heavy chain 11; Bench to Bassinet Program (B2B/CVDC), mutation 1727 Cecilia Lo
MGI ID: MGI:5437727
Synonyms: Mickey
Gene: Dnah11  Location: Chr12:117877982-118199043 bp, - strand  Genetic Position: Chr12, 63.25 cM
Mutant 1727-002-LA displays heterotaxy indicated by dextrocardia with lung lobation and levogastria

Show the 15 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The causitive molecular lesion for the cardiovascular phenotypes is a mutation in the Dnahc11 gene. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah11b2b1727Clo, and may be present in stocks carrying this mutation.
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dnah11 Mutation:  93 strains or lines available
Summative Diagnosis:
Cardiovascular phenotype: Complex congenital heart disease associated with heterotaxy such as levocardia/dextrocardia, double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), atrioventricular septal defect (AVSD), right aortic arch (RAA)
Noncardiovascular phenotype: Situs inversus totalis, as well as abnormal thoracic and abdominal organ situs anomalies, such as hypoplastic/abnormal spleen. Also observed was immotile/hyperkinetic/dyskinetic respiratory airway cilia and hydronephrosis

Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia, Heterotaxy, Kartagener's syndrome

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0100 Situs inversus totalis
0110 Dextrocardia
0190 Heterotaxy Syndrome
0600 Double outlet right ventricle
0602 DORV, ventricular defect committed to aorta
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
2700 Abnormal aortic arch
2720 Right aortic arch
3804 Congenital heart disease
3816 Abdominal situs inversus
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3950 {S,D,D}
3974 {I,L,I}
4502 Hydronephrosis
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality

Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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