This Smarc14 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 C-to-T point mutation at position 1249 of the Smarca4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4) cDNA 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.
Two phenotypes are observed. In the first, homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV)/overriding aorta, perimembranous (pmVSD), and muscular ventricular septal defect (mVSD).
In the second phenotype, homozygotes demonstrate a coronary artery fistula to the right ventricle (RV).
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-to-T single point mutation at position 1249 of the cDNA (c.C1249T, NM_011417) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause an arginine to cysteine amino acid substitution at position 417 of the encoded protein (p.R417C).
|Allele Name||Bench to Bassinet Program (B2B/CvDC), mutation 692 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Smarca4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Phenotype 1:Cardiovascular defects: Double outlet right ventricle (DORV)/overriding aorta, perimembranous (pmVSD), muscular ventricular septal defect (mVSD)
Phenotype 2:Cardiovascular defects: Coronary artery fistula to right ventricle (RV)