Plxnd1^b2b553Clo
Chemically induced Allele Detail

Summary

• Symbol: Plxnd1^b2b553Clo
• 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: Plxnd1^b2b553Clo 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 details: This 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, Plxnd1^b2b553Clo, and may be present in stocks carrying this mutation.

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: 88 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)