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Chemically induced Allele Detail
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: Chr15:28203898-28472198 bp, + strand  Genetic Position: Chr15, 10.9 cM
Mutant 002-044-NG exhibits heterotaxy with dextrocardia and abnormal position of the great arteries which is diagnosed as DORV by EFIC imaging

Show the 20 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 13169 in exon 76 of the cDNA (c.13169T>C, NM_133365). This changes the leucine residue to proline at position 4390 of the encoded protein (p.L4390P). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnah5b2b002Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
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:  147 strains or lines available
Summative Diagnosis
Cardiovascular defects:Situs inversus totalis and heterotaxy with congenital heart disease such as dextrocardia, double outlet right ventricle (DORV), transposition of the great arteries (TGA), ventricular (VSD), atrial (ASD), and atrioventricular septal defect (AVSD), and superior-inferior ventricles.
Non-cardiovascular defects: Abnormal thoracic and abdominal organ situs anomalies, such as malalignment of sternal vertebrae, right pulmonary isomerism, hypoplastic spleen, as well as inverted liver and lung. Also observed were kidney defects such as duplex, cystic, and hydronephrotic. Tracheal airway cilia were immotile.

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
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
0700 D-loop transposition of the great arteries
1100 Atrioventricular canal (endocardial cushion defect)
1170 Common AV valve
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4240 Right bronchial isomerism
4502 Hydronephrosis
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality

Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.17
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