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Dnah5b2b016Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah5b2b016Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 016 Cecilia Lo
MGI ID: MGI:5285078
Synonyms: Dakshi
Gene: Dnah5  Location: Chr15:28203752-28472045 bp, + strand  Genetic Position: Chr15, 10.9 cM
Dextrocardia, right-sided stomach and pancreas (liver removed) and abnormal lung lobation

Show the 9 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 Dnah5 Mutation:  11 strains or lines available
Notes
Summative Diagnosis
Cardiovascular defects: Situs inversus and heterotaxy with congenital heart disease: Double outlet right ventricle (DORV), overriding aorta, and atrio-ventricular septal defect (AVSD).
Non-cardiovascular defects: Tracheal airway show slow ciliary motility, with some regions of immotility. Kidney defects - duplex kidney and hydronephrosis.
Mutation:Protein: DNAHC5-Ser3350Pro
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
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
2810 Inferior vena cava anomaly
3810 Heart disease
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
E001 Congenital

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