This Cfc1 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of heterotaxy and 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.T68A Cfc1 (cripto, FRL-1, cryptic family 1) point 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 described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate heterotaxy with right pulmonary isomerism, dual inferior vena cavae (IVC), dextrogastria, and mesocardia with congenital heart disease (transposition of the great arteries (TGA) and unbalanced atrio-ventricular septal defect (AVSD)).
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 point mutation at position 68 of the cDNA (c.T68A) (Ref seq NM_007685) was discovered through whole exome, high throughput sequencing. This is predicted to alter a valine residue to a glutamic acid at position 1214 (p.V23E) in the encoded protein.
|Allele Name||Bench to Bassinet Program (B2B/CVDC) mutation 970, Cecilia Lo|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Cfc1c.T68A; LOL (lots o' lungs)|
|Gene Symbol and Name||Cfc1, cripto, FRL-1, cryptic family 1|
|Strain of Origin||C57BL/6J|
|General Note||Summative Diagnosis: |
Cardiovascular defects: Heterotaxy with defect phenotypes such as right pulmonary isomerism, dual inferior vena cavae (IVC), dextrogastria, and mesocardia with congenital heart disease: - transposition of the great arteries (TGA) and unbalanced atrio-ventricular septal defect (AVSD)
Non-Cardiovascular defects: Hypoplastic spleen