Cfc1^b2b970Clo
Chemically induced Allele Detail

Summary

• Symbol: Cfc1^b2b970Clo
• Name: cryptic, EGF-CFC family member 1; Bench to Bassinet Program (B2B/CVDC) mutation 970, Cecilia Lo
• MGI ID: MGI:5311378
• Synonyms: Cfc1^c.T68A, LOL (lots o' lungs)
• Gene: Cfc1 Location: Chr1:34574729-34583392 bp, + strand Genetic Position: Chr1, 13.34 cM, cytoband B
• Alliance: Cfc1^b2b970Clo page

Heterotaxy is indicated with right pulmonary isomerism and dual inferior vena cava

Show the 15 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. The causitive molecular lesion for the cardiovascular phenotypes is a T to A substitution at coding nucleotide postition 68 in exon 2 of the cDNA (c.68T>A, Ref seq NM_007685). This changes the valine residue to glutamic acid at position 23 in the encoded protein (p.V23E). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cfc1^b2b970Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

5 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:
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

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
0190	Heterotaxy syndrome
0700	D-loop transposition of the great arteries
1132	Unbalanced complete common atrioventricular canal
3804	Congenital heart disease
3982	{A,D,D}

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)