Plxnd1b2b3150Clo
Chemically induced Allele Detail
|
Symbol: |
Plxnd1b2b3150Clo |
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: |
Plxnd1b2b3150Clo page
|
|
Mutant 3150-003-2 (E15.5) exhibits a hypoplastic and malpositioned.
Show the 11 phenotype image(s) involving this allele.
|
|
|
Strain of Origin: |
C57BL/6J
|
Project Collection: |
B2B/CvDC
|
|
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)
|
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
|
|
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
|
|
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.
|