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Cplane2b2b2827Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Cplane2b2b2827Clo
Name: ciliogenesis and planar polarity effector 2; Bench to Bassinet Program (B2B/CVDC), mutation 2827 Cecilia Lo
MGI ID: MGI:5560911
Gene: Cplane2  Location: Chr4:141213940-141220114 bp, + strand  Genetic Position: Chr4, 73.47 cM
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 detailsThis 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, Cplane2b2b2827Clo, 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 Structures Affected by this Mutation: 12 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 Cplane2 Mutation:  2 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). 2011-15;
All:  2 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
04/13/2021
MGI 6.16
The Jackson Laboratory