Cplane2b2b2804Clo
Chemically induced Allele Detail
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Symbol: |
Cplane2b2b2804Clo |
Name: |
ciliogenesis and planar polarity effector 2; Bench to Bassinet Program (B2B/CVDC), mutation 2804 Cecilia Lo |
MGI ID: |
MGI:5616147 |
Gene: |
Cplane2 Location: Chr4:140941249-140947425 bp, + strand Genetic Position: Chr4, 73.47 cM
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Alliance: |
Cplane2b2b2804Clo page
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Mutant (E14.5) shows persistent truncus arteriosus (PTA), and dual inferior vena cava (IVC), which was confirmed by ECM imaging.
Show the 9 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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Undefined
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Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 428 in exon 5 of the cDNA (c.428T>C, NM_001081174). This changes the phenylalanine residue to serine at position 143 of the encoded protein (p.F143S).
(J:175213)
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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 Cplane2 Mutation: |
19 strains or lines available
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Summative Diagnosis:
Cardiovascular phenotypes: Persistant truncus arteriosus (PTA), atrial ventricular septal defect (AVSD), common atrium, abnormal pulmonary artery branching, and duplicated inferior vena cava (IVC).
Noncardiovascular phenotype: Preaxial digit duplication, central polydactyly, micrognathia, and eye defects including anophthalmia and micophthalmia.
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