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Cc2d2ab2b1035Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Cc2d2ab2b1035Clo
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
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 detailsThis 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, Cc2d2ab2b1035Clo, 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 Mice Carrying this Mutation: 5 assay results
In Structures Affected by this Mutation: 8 anatomical structures
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:  66 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). 2011-15;
All:  3 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
11/23/2021
MGI 6.17
The Jackson Laboratory