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Plxnd1b2b3150Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Plxnd1b2b3150Clo
Name: plexin D1; Bench to Bassinet Program (B2B/CVDC), mutation 3150 Cecilia Lo
MGI ID: MGI:5648017
Gene: Plxnd1  Location: Chr6:115954811-115995005 bp, - strand  Genetic Position: Chr6, 53.72 cM
Mutant 3150-003-2 (E15.5) exhibits a hypoplastic and malpositioned.

Show the 11 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 detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 4445 in exon 25 of the cDNA (c.4445T>A, NM_026376). This changes the methionine residue to lysine at position 1482 of the encoded protein (p.M1482K). (J:175213)
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: 10 anatomical structures
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 Plxnd1 Mutation:  4 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular phenotypes: Congenital heart defects including persistent truncus arteriosus (PTA), atrioventricular septal defect (AVSD), common atrium, ventricular septal defect (VSD), right aortic arch (RAA),aberrant subclavian artery forming incomplete vascular ring.

Noncardiovascular phenotype: Kidney agenesis, hyoplastic thymus, micrognathia, short snout, cleft palate.

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
500 Truncus arteriosus
1100 Atrioventricular canal (endocardial cushion defect)
1140 Common atrium
1300 Ventricular septal defect
2720 Right aortic arch
2730 Aberrant left subclavian artery
2760 Vascular ring
4163 Micrognathia
4503 Agenesis of kidneys
4610 DiGeorge syndrome
4876 Cleft palate
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:  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
09/05/2019
MGI 6.14
The Jackson Laboratory