Plxnd1^b2b1863Clo
Chemically induced Allele Detail

Summary

• Symbol: Plxnd1^b2b1863Clo
• Name: plexin D1; Bench to Bassinet Program (B2B/CVDC), mutation 1863 Cecilia Lo
• MGI ID: MGI:5476170
• Synonyms: Snowman
• Gene: Plxnd1 Location: Chr6:115931772-115971966 bp, - strand Genetic Position: Chr6, 53.72 cM
• Alliance: Plxnd1^b2b1863Clo page

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 details: This 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, Plxnd1^b2b1863Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 87 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). 2011-09-12
• All: 3 reference(s)