This Foxj1 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of heterotaxy and congenital heart disease.
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 T425A Foxj1 (forkhead box J1) point 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 mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects, including situs inversus totalis, and heterotaxy. Congenital heart disease (CHD) is marked by left and right ventricle hypertrophy.
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 T425A point mutation in the Foxj1 gene was discovered through whole exome, high throughput sequencing.
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 774 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Foxj1T425A; Tails|
|Gene Symbol and Name||Foxj1, forkhead box J1|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Laterality defects: Situs inversus totalis and heterotaxy