Dnai1^b2b284Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnai1^b2b284Clo
• Name: dynein axonemal intermediate chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 284 Cecilia Lo
• MGI ID: MGI:5285080
• Synonyms: Bishu, Dnaic1^IVS4+1G-A
• Gene: Dnai1 Location: Chr4:41569775-41638158 bp, + strand Genetic Position: Chr4, 21.75 cM
• Alliance: Dnai1^b2b284Clo page

Dextrocardia with parallel outflow tracts suggestive of DORV (confirmed by EFIC imaging).

Show the 19 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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). (J:175213, J:216862)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Dnai1 Mutation: 47 strains or lines available

Notes

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

References

• 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). 2011-09-12
• All: 3 reference(s)