This undefined 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 undefined 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 aortic arch anomalies such as right aortic arch (RAA) and aberrant major artery branching from aorta, and biventricular hypertrophy. Oligodactyly, kinked tail, anophthalmia, short snout, agnathia, low set ears, and kidney agenesis are also seen. Chiari malformation was seen in one mutant.
This undefined 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 2738 Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||b2b2738Clo, Mutant line 2738|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis:|
Cardiovascular Phenotype: Aortic arch anomalies such as right aortic arch (RAA) and aberrant major artery branching from aorta, biventricular hypertrophy.
Noncardiovascular Phenotype: Oligodactyly, kinked tail, anophthalmia, short snout, agnathia, low set ears, and kidney agenesis. Chiari malformation seen in one mutant.
Phenotypic Similarity to Human Syndrome: Chiari malformation