Plxnd1b2b553Clo
Chemically induced Allele Detail
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| 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
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| Alliance: |
Plxnd1b2b553Clo page
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Glomerular cysts in mutant 553-007-1 (E17.5)
Show the 14 phenotype image(s) involving this allele.
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| Strain of Origin: |
C57BL/6J
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| Project Collection: |
B2B/CvDC
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| Allele Type: |
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Chemically induced (ENU) |
| Mutation: |
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Single point mutation
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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,
Plxnd1b2b553Clo, and may be present in stocks carrying this mutation.
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Plxnd1 Mutation: |
87 strains or lines available
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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
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Analysis Tools
