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Allele : Dnai1<b2b284Clo> dynein axonemal intermediate chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 284 Cecilia Lo
Primary Identifier  MGI:5285080 Allele Type  Chemically induced (ENU)
Gene  Dnai1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis
Cardiovascular defects: Laterality defects with situs inversus totalis, heterotaxy and congenital heart disease: Atrioventricular setpal defect (AVSD), transposition of the great arteries (TGA), and double outlet right ventricle (DORV).
Non-cardiovascular defects: Tracheal airway cilia immotile, but very few cilia are observed to have twitching motion.

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)
3804 Congenital heart disease
3817 Abdominal situs ambiguous (abdominal heterotaxy)
3237 Bronchial situs inversus

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 240 (c.240+1G>A) in intron 4. This changes splice donor site A-GT to A-AT (which is assumed to be inactive).
  • mutations:
  • Single point mutation
  • synonyms:
  • Bishu,
  • Dnaic1<IVS4+1G-A>,
  • Dnaic1<IVS4+1G-A>,
  • Bishu
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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

6 Publication categories





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