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Allele : Dnah5<b2b2925Clo> dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 2925 Cecilia Lo
Primary Identifier  MGI:5618818 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 phenotypes: Complex congenital heart disease associated with heterotaxy including mesocardia, dextroversion, double outlet right ventricle, atrioventricular septal defect (AVSD), right aortic arch and interrupted aortic arch (type-B), aberrant right subclavian artery, bilateral inferior vena cava (IVC), intracardiac total anomalous pulmonary venous return (TAPVR), common atrium, and hypoplastic right ventricle.

Noncardiovascular phenotype: Visceral organ situs anomalies, including situs inversus, dextrogastria,left lung isomerism, asplenia, immotile respiratory tracheal cilia.

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 Codes Code Description
140 Mesocardia
900 Totally anomalous pulmonary venous return
100 Situs inversus totalis
110 Dextrocardia
1140 Common atrium
1821 Hypoplastic right ventricle (subnormal cavity volume)
190 Heterotaxy Syndrome
2731 Aberrant right subclavian artery
3816 Abdominal situs inversus
4239 Left bronchial isomerism
4771 Asplenia
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
606 DORV + AVSD (AV canal)

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at nucleotide +2 after coding nucleotide 2259 (c.2259+2T>A, NM_133365) in intron 15. This changes splice donor site G-GT to G-GA (which is assumed to be inactive).
  • mutations:
  • Single point mutation
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