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Dnah11b2b1727Clo
Chemically induced Allele Detail
Nomenclature
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 image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  12 strains or lines available
Notes
Summative Diagnosis:
Cardiac defects: Complex congenital heart disease associated with heterotaxy such as double outlet right ventricle (DORV) with subaortic ventricular septal defect, atrioventricular septal defect (AVSD), hypoplastic/abnormal spleen
Noncardiac defects: 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
0190 Heterotaxy Syndrome
0602 DORV, ventricular defect committed to aorta
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
3804 Congenital heart disease
3950 {S,D,D}
3974 {I,L,I}
4200 Respiratory anomaly
4502 Hydronephrosis

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory