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Allele : Dnah5<b2b016Clo> dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 016 Cecilia Lo
Primary Identifier  MGI:5285078 Allele Type  Chemically induced (ENU)
Gene  Dnah5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis
Cardiovascular phenotype: Situs inversus and heterotaxy with complex congenital heart disease such as dextrocardia, double outlet right ventricle (DORV), and ventricular (VSD) and atrioventricular septal defect (AVSD)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, inverted liver and lung lobation, and malaligned sternal vertebra. Tracheal airway show slow ciliary motility, with some regions of immotility.

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
0190 Heterotaxy Syndrome
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
2810 Inferior vena cava anomaly
3817 Abdominal situs ambiguous (abdominal heterotaxy)
4100 Skeletal, skin, muscle anomaly
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality
E001 Congenital

molecularNote  This 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 10048 in exon 59 of the cDNA (c.10048T>C, NM_133365). This changes the serine residue to proline at position 3350 of the expressed protein (p.S3350P).
  • mutations:
  • Single point mutation
  • synonyms:
  • Dakshi,
  • Dakshi
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Trail: Allele

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0 Mutation Involves

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Mouse alleles --> Mammalian phenotypes (MP terms)

 

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