This mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and craniofacial development.
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 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 cardiovascular defects that involve a double outlet right ventricle (DORV) and ventricular septal defect (VSD). Cleft palate and micrognathia (abnormally small lower jaw) are also seen.
This mutation, identified in an ENU screen for recessive cardiovascular development phenotypes, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.
|Allele Name||Bench to Bassinet Program (B2B/CVDC), mutation 019 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Beetlejuice; Bj; c.G482T; p.C161F|
|Gene Symbol and Name||Prickle1, prickle planar cell polarity protein 1|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis|
Cardiovascular defects: Double outlet right ventricle (DORV) and ventricular septal defect (VSD).
Non-cardiovascular defects: Cleft palate, Microcephaly, Micrognathia
Phenotypic Similarity to Human Syndrome: Velocardiofacial syndrome