This Dnai1 (dynein, axonemal, intermediate chain 1) recessive mutation was identified in a screen of ENU-induced mutations and may be useful in studies of ciliary dyskinesia and visceral heterotaxy.
The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.
Cecilia Lo, Univ of Pittsburgh School of Medicine
This c.240+1G>A Dnai1 (dynein, axonemal, intermediate chain 1) recessive mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental ENU mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects including situs inversus totalis and heterotaxy. Congenital heart disease (CHD) is marked by atrioventricular septal defects (AVSD) and transposition of the great arteries (TGA). Hypoplastic spleen and asplenia are also observed. The cilia of the trachea are immotile, but a few show a twitching motion.
This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. A c.240+1G>A mutation in the Dnai1 gene was discovered through whole exome, high throughput sequencing (RefSeq NM_175138). This is a splice site mutation in intron 1 and is predicted to result in the insertion of novel amino acids and the introduction of a premature stop codon.
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 284 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Bishu; Dnaic1IVS4+1G-A|
|Gene Symbol and Name||Dnai1, dynein axonemal intermediate chain 1|
|Strain of Origin||C57BL/6J|
|General Note||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.