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Plxnd1b2b553Clo
Chemically induced Allele Detail
Summary
Symbol: Plxnd1b2b553Clo
Name: plexin D1; Bench to Bassinet Program (B2B/CvDC), mutation 553 Cecilia Lo
MGI ID: MGI:5316780
Synonyms: Sea Sponge
Gene: Plxnd1  Location: Chr6:115931772-115971966 bp, - strand  Genetic Position: Chr6, 53.72 cM
Alliance: Plxnd1b2b553Clo page
Glomerular cysts in mutant 553-007-1 (E17.5)

Show the 14 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 an A to G substitution at coding nucleotide 4727 in exon 27 of the cDNA (c.4727A>G, NM_026376). This changes the aspartic acid residue to glycine at position 1576 of the encoded protein (p.D1576G). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Plxnd1b2b553Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 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 Plxnd1 Mutation:  87 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular defects: Persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), atrio-ventricular septal defect (AVSD), right aortic arch (RAA), cystic atria and dual inferior vena cavae (IVC).
Non-cardiovascular defects: Glomerular cysts, 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
0500 Truncus arteriosus
0510 Truncus arteriosus type i
0520 Truncus arteriosus type ii
0600 Double outlet right ventricle
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
2810 Inferior vena cava anomaly
4503 Agenesis of kidneys

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)

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
11/12/2024
MGI 6.24
The Jackson Laboratory