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Dnah5b2b002Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Dnah5b2b002Clo
Name: dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 002 Cecilia Lo
MGI ID: MGI:5294340
Synonyms: Scar, Scaramanga
Gene: Dnah5  Location: Chr15:28203752-28472045 bp, + strand  Genetic Position: Chr15, 10.9 cM
Dextrocardia, abnormal lung lobation pattern, malrotation of intestine, and symmetric liver

Show the 8 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 totalis and heterotaxy with congenital heart disease: Double outlet right ventricle (DORV), transposition of the great arteries (TGA), atrioventricular septal defect (AVSD), and superior-inferior ventricles.
Non-cardiovascular defects: Tracheal airway cilia are immotile.
Protein expressed: Dnahc5 p.Lys4390>Pro
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
0102 Levocardia
0110 Dextrocardia
0159 Biventricular, discordant atrioventricular connection
0160 Biventricular, ambiguous atrioventricular connection
0184 Superior-inferior ventricles (upstairs-downstairs ventricles)
0190 Heterotaxy syndrome
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1170 Common AV valve
3804 Congenital heart disease
3810 Heart disease
3813 Abdominal situs solitus
3816 Abdominal situs inversus
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