Cplane1^b2b012Clo
Chemically induced Allele Detail

Summary

• Symbol: Cplane1^b2b012Clo
• Name: ciliogenesis and planar polarity effector 1; Bench to Bassinet Program (B2B/CVDC), mutation 012 Cecilia Lo
• MGI ID: MGI:5297398
• Synonyms: Heart Under Glass, Hug, Jbts17^Hug, Jbts^hug
• Gene: Cplane1 Location: Chr15:8198590-8300642 bp, + strand Genetic Position: Chr15, 3.82 cM, cytoband A2
• Alliance: Cplane1^b2b012Clo page

Mutant 012-029-NB has RAA, DORV, and pulmonary stenosis

Show the 64 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 T to C substitution at coding nucleotide 757 in exon 8 of the cDNA (c.757T>C, NM_001162906). This changes the serine residue to proline at position 253 of the encoded protein (p.S253P). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cplane1^b2b012Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

27 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 Cplane1 Mutation: 129 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular defects: Double outlet right ventricle (DORV) {S,D,D}, pulmonary atresia/hypolastic pulmonary artery (PA), atrioventricular septal defect (AVSD), right aortic arch (RAA), and abnormal coronary vein
Non-cardiovascular defects: Cleft lip and palate, polydactyly, sternal bone malalignment and hypoplasia, hypoplastic lungs, micrognathia, duplex and cystic kidney

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
0600	Double outlet right ventricle
0602	DORV, ventricular defect committed to aorta
1000	Pulmonary atresia congenital
1100	Atrioventricular canal (endocardial cushion defect)
2720	Right aortic arch
2966	Hypoplastic main pulmonary artery
3804	Congenital heart disease
3950	{S,D,D}
4100	Skeletal, skin, muscle anomaly
4103	Polydactyly
4163	Micrognathia
4401	Cleft palate and 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: 3 reference(s)