Plxnd1^b2b3150Clo
Chemically induced Allele Detail

Summary

• Symbol: Plxnd1^b2b3150Clo
• Name: plexin D1; Bench to Bassinet Program (B2B/CVDC), mutation 3150 Cecilia Lo
• MGI ID: MGI:5648017
• Gene: Plxnd1 Location: Chr6:115931772-115971966 bp, - strand Genetic Position: Chr6, 53.72 cM
• Alliance: Plxnd1^b2b3150Clo page

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 details: This 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)

Disease models

Expression

In Structures Affected by this Mutation:

9 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: 86 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). 2011-09-12
• All: 3 reference(s)