Cfc1^b2b2736.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Cfc1^b2b2736.1Clo
• Name: cryptic, EGF-CFC family member 1; Bench to Bassinet Program (B2B/CVDC) mutation 2736.1, Cecilia Lo
• MGI ID: MGI:5560815
• Gene: Cfc1 Location: Chr1:34574729-34583392 bp, + strand Genetic Position: Chr1, 13.34 cM, cytoband B
• Alliance: Cfc1^b2b2736.1Clo page

Mutant 2736-005-LA shows heterotaxy with dextrocardia, right pulmonary isomerism (4R/4L), and left liver isomerism (2R/2L)

Show the 26 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2736Clo. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 103 (c.103+1G>A, NM_007685) in intron 2, changing splice donor site A-GT to A-AT (which is assumed to be inactive or much less efficient). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cfc1^b2b2736.1Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cfc1 Mutation: 22 strains or lines available

Notes

Summative Diagnosis:
Mutant Type 1: Cardiovascular Phenotype: Complex congenital heart defects associated with heterotaxy, such as dextroversion with transposition of the great arteries (TGA), unbalanced atrioventricular ventricular septal defect (AVSD), muscular ventricular septal defects (mVSD), hypoplastic right ventricle (RV), common atrium, right aortic arch (RAA), right atrial isomerism, aberrant right subclavian artery, bilateral patent ductus arteriosus (PDA) forming vascular ring, superior-inferior ventricles, and total anomalous pulmonary venous return (TAPVR, intracardiac type)
Noncardiovascular Phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, right bronchial isomerism, polysplenia, left liver isomerism, inverted liver lobation, malaligned sternal vertebra, and hypoplastic spleen

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID	Code Description
1100	Atrioventricular canal (endocardial cushion defect)
2700	Abnormal aortic arch
2760	Vascular ring
4906	Non-cardiac abnormality
0184	Superior-inferior ventricles (upstairs-downstairs ventricles)
0190	Heterotaxy Syndrome
0700	D-loop transposition of the great arteries
1140	Common atrium
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
1821	Hypoplastic right ventricle (subnormal cavity volume)
2731	Aberrant right subclavian artery
4100	Skeletal, skin, muscle anomaly
4240	Right bronchial isomerism
4907	Non-cardiac thoracic abnormality

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 2 reference(s)