This Kif7 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 T-to-C point mutation at position 5503 of the Kif7 (kinesin family member 7) 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.
Homozygotes demonstrate overriding aorta, double outlet right ventricle (DORV), hypoplastic pulmonary artery (PA), ventricular septal defect (VSD), and atrioventricular septal defect (AVSD). Polydactyly with preaxial or postaxial digit duplication, abnormal lung lobation, abnormal gonad development, cleft lip and palate, micropthalmia/anopthalmia, hydrocephaly, and exencephaly are 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. A T-to-A single point mutation at position 557 of the cDNA (c.T557A, NM_010626) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a valine to glutamic acid amino acid substitution at position 186 of the encoded protein (p.V186E).
|Allele Name||Bench to Bassinet Program (B2B/CVDC) mutation 2254, Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Kif7, kinesin family member 7|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiac Phenotype: Overriding aorta, double outlet right ventricle (DORV), hypoplastic pulmonary artery (PA), ventricular septal defect (VSD), and atrioventricular septal defect (AVSD)
Non-Cardiac Phenotype: Polydactyly with preaxial or postaxial digit duplication, abnormal lung lobation, abnormal gonad development, cleft lip and palate, micropthalmia/anopthalmia, hydrocephaly, exencephaly