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Cfc1b2b2736.1Clo
Chemically induced Allele Detail
Summary
Symbol: Cfc1b2b2736.1Clo
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: Cfc1b2b2736.1Clo 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 detailsThis 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, Cfc1b2b2736.1Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory