Cc2d2a^b2b1035Clo
Chemically induced Allele Detail

Summary

• Symbol: Cc2d2a^b2b1035Clo
• Name: coiled-coil and C2 domain containing 2A; Bench to Bassinet Program (B2B/CVDC), mutation 1035 Cecilia Lo
• MGI ID: MGI:5311382
• Synonyms: Blue meanie
• Gene: Cc2d2a Location: Chr5:43819715-43898317 bp, + strand Genetic Position: Chr5, 23.78 cM
• Alliance: Cc2d2a^b2b1035Clo page

Heterotaxy indicated by left lung isomerism with left sided IVC and TGA (observed by EFIC imaging)

Show the 21 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 molecular lesion is a C to T substitution at coding nucleotide 2845 in exon 23 of the cDNA (c.2845C>T, NM_172274). This changes the arginine residue to a translation stop at position 949 of the encoded protein (p.R949*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cc2d2a^b2b1035Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Mice Carrying this Mutation:	5 assay results
In Structures Affected by this Mutation:	7 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 Cc2d2a Mutation: 101 strains or lines available

Notes

Summative Diagnosis:
Cardiac phenotype: Heterotaxy with dextrocardia/mesocardia and congenital heart defects (CHD) such as transposition of the great arteries (TGA), superior-inferior ventricles, double outlet right ventricle (DORV), persistent truncus arteriosus (PTA) pulmonary atresia, tricuspid atresia, and atrioventricular septal defect (AVSD). HRHS suspected based on CT for 028-NB.
Noncardiac phenotype: Eye defect with anophthalmia/enophthalmia, preaxial digit duplication/polydactyly, duplex and cystic kidneys, cleft palate, eye defect,and intraurterine growth restriction.

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
0159	Biventricular, discordant atrioventricular connection
0184	Superior-inferior ventricles (upstairs-downstairs ventricles)
0190	Heterotaxy syndrome
0400	Tricuspid atresia
0500	Truncus arteriosus
0606	DORV + AVSD (AV canal)
1140	Common atrium
1300	Ventricular septal defect
1320	Ventricular septal defect, muscular
1610	Pulmonary stenosis
3804	Congenital heart disease
3983	{A,D,D}
4103	Polydactyly
4508	Polycystic kidney disease
4864	Anophthalmia
4876	Cleft palate
4877	Microphthalmia
4906	Non-cardiac 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: 3 reference(s)