Cplane2^b2b2827Clo
Chemically induced Allele Detail

Summary

• Symbol: Cplane2^b2b2827Clo
• Name: ciliogenesis and planar polarity effector 2; Bench to Bassinet Program (B2B/CVDC), mutation 2827 Cecilia Lo
• MGI ID: MGI:5560911
• Gene: Cplane2 Location: Chr4:140941249-140947425 bp, + strand Genetic Position: Chr4, 73.47 cM
• Alliance: Cplane2^b2b2827Clo page

Mutant 2827-004-1 (E16.5) exhibits heterotaxy with dextrocardia, PTA, and hypoplastic lungs

Show the 12 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: Undefined
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 112 (c.112+1G>A, NM_001081174) in intron 1. This changes splice donor site G-GT to G-AT (which is assumed to be inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cplane2^b2b2827Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

12 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 Cplane2 Mutation: 19 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular Phenotype: Heterotaxy with complex congenital heart anomalies such as dextrocardia, superior-inferior ventricles, pulmonary atresia, persistant truncus arteriosus (PTA), atrioventricular septal defect (AVSD), and common atrium, right aortic arch (RAA), and juxtaposition of atria
Noncardiovascular Phenotype: Preaxial and central polydactyly, cleft lip, micrognathia, as well as hypoplastic lungs and thymus. Also presented with tracheoesophageal anomalies such as tracheoesophageal fistula, absent trachea, and lungs connected to esophagus.

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
0110	Dextrocardia
0190	Heterotaxy syndrome
0500	Truncus arteriosus
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
4103	Polydactyly
4163	Micrognathia
4170	Hand and/or foot anomaly
4202	Tracheoesophageal fistula
4875	Cleft lip
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: 2 reference(s)