This Rfx3 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of 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 mutation, attributed to the Rfx3 (regulatory factor X, 3 (influences HLA class II expression)) gene 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 here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate heterotaxy with hypertrophic cardiomyopathy and ventricular septal defect (VSD). Abnormal visceral organ situs is also seen.
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. The mutant phenotype is attributed to a mutation in the Rfx3 gene.
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 1213 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Rfx3, regulatory factor X, 3 (influences HLA class II expression)|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiovascular phenotype: Heterotaxy with hypertrophic cardiomyopathy and ventricular septal defect (VSD)
Noncardiovascular phenotype: Abnormal visceral organ situs