Cplane2^b2b2804Clo
Chemically induced Allele Detail

Summary

• Symbol: Cplane2^b2b2804Clo
• Name: ciliogenesis and planar polarity effector 2; Bench to Bassinet Program (B2B/CVDC), mutation 2804 Cecilia Lo
• MGI ID: MGI:5616147
• Gene: Cplane2 Location: Chr4:140941249-140947425 bp, + strand Genetic Position: Chr4, 73.47 cM
• Alliance: Cplane2^b2b2804Clo page

Mutant (E14.5) shows persistent truncus arteriosus (PTA), and dual inferior vena cava (IVC), which was confirmed by ECM imaging.

Show the 9 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 T to C substitution at coding nucleotide 428 in exon 5 of the cDNA (c.428T>C, NM_001081174). This changes the phenylalanine residue to serine at position 143 of the encoded protein (p.F143S). (J:175213)

Disease models

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Cplane2 Mutation: 19 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Persistant truncus arteriosus (PTA), atrial ventricular septal defect (AVSD), common atrium, abnormal pulmonary artery branching, and duplicated inferior vena cava (IVC).

Noncardiovascular phenotype: Preaxial digit duplication, central polydactyly, micrognathia, and eye defects including anophthalmia and micophthalmia.

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 Codes	Code Description
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
2810	Inferior vena cava anomaly
4103	Polydactyly
4163	Micrognathia
4170	Hand and/or foot anomaly
4864	Anophthalmia
4877	Microphthalmia
4906	Non-cardiac abnormality
500	Truncus arteriosus

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)