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Dnah5b2b1003Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah5b2b1003Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 1003 Cecilia Lo
MGI ID: MGI:5297426
Synonyms: Dnahc5c.T5503C
Gene: Dnah5  Location: Chr15:28203752-28472045 bp, + strand  Genetic Position: Chr15, 10.9 cM
Mutant 1003-004-LA exhibits heterotaxy indicated by levocardia and dextrogastria

Show the 8 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
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: Complex congenital heart defects associated with heterotaxy
Non-cardiovascular defects: Situs inversus totalis, as well as heterotaxy with abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria. Also observed were immotile airway cilia and kidney abnormalities

Phenotypic Similarity to Human Syndrome: Primary Ciliary Dyskinesia, Kartagener's syndrome, Heterotaxy

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
0190 Heterotaxy Syndrome
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4512 Renal malformation
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

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
08/19/2014
MGI 5.19
The Jackson Laboratory