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Allele : Dnah5<b2b601Clo> dynein, axonemal, heavy chain 5; Bench to Bassinet Program (B2B/CVDC), mutation 601 Cecilia Lo
Primary Identifier  MGI:5311153 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 defect: Situs inversus totalis and heterotaxy with abdominal situs ambigous and congenital heart disease: Dextrocardia with double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD).
Non-cardiovascular defect: Immotile airway cilia with outer dynein arm defect.

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
0140 Mesocardia
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3974 {I,L,I}

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 438 (c.438+2T>A, NM_133365) in intron 4. This changes splice donor site G-GT to G-GA (which is assumed to be inactive).
  • mutations:
  • Single point mutation
  • synonyms:
  • Dnahc5<c.438+2T-A>,
  • Dnahc5<c.438+2T-A>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories





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