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Dnah5b2b601Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah5b2b601Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 601 Cecilia Lo
MGI ID: MGI:5311153
Synonyms: Dnahc5c.438+2T-A
Gene: Dnah5  Location: Chr15:28203752-28472045 bp, + strand  Genetic Position: Chr15, 10.9 cM
Situs inversus totalis

Show the 10 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 defect: Situs inversus totalis and heterotaxy with abdominal situs ambigous and congenital heart disease: Dextrocardia with double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD).
Non-cardiovascular defect: Immotile airway cilia with outer dynein arm defect.

Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia, Kartagener 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
0140 Mesocardia
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}

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
04/15/2014
MGI 5.17
The Jackson Laboratory