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Plxnd1b2b1863Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Plxnd1b2b1863Clo
Name: plexin D1; Bench to Bassinet Program (B2B/CVDC), mutation 1863 Cecilia Lo
MGI ID: MGI:5476170
Synonyms: Snowman
Gene: Plxnd1  Location: Chr6:115954811-115995005 bp, - strand  Genetic Position: Chr6, 53.72 cM
Mutant 1863-002-4 (E16.5) has a hypoplastic transverse arch and malaligned great arteries

Show the 16 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
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 2691 (c.2691+1G>A, NM_026376) in intron 12. 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, Plxnd1b2b1863Clo, 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: 4 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 Plxnd1 Mutation:  4 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular Phenotype: Persistent Truncus Arteriosus (PTA) with ambiguos atrial situs, double outlet right ventricle (DORV), right aortic arch (RAA), duplicated inferior vena cava (IVC), atrioventricular septal defect (AVSD)
Noncardiovascular Phenotype: Hypoplastic/abnormal thymus, cleft palate, duplex kidney, kidney agenesis

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
0521 Truncus arteriosus type iia
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
2810 Inferior vena cava anomaly
4503 Agenesis of kidney
4610 DiGeorge syndrome
4876 Cleft palate

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
09/10/2019
MGI 6.14
The Jackson Laboratory