Wnt5ab2b3077.1Clo
Chemically induced Allele Detail
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Symbol: |
Wnt5ab2b3077.1Clo |
Name: |
wingless-type MMTV integration site family, member 5A; Bench to Bassinet Program (B2B/CVDC), mutation 3077, subline 1 Cecilia Lo |
MGI ID: |
MGI:5646613 |
Synonyms: |
Po |
Gene: |
Wnt5a Location: Chr14:28226707-28249405 bp, + strand Genetic Position: Chr14, 16.8 cM
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Alliance: |
Wnt5ab2b3077.1Clo page
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Mutant 3077-006-2 (E15.5) exhibits parallel outflow tracts, pulmonary stenosis, and small left atrium later diagnosed as double outlet right ventricle (DORV), hypoplastic pulmonary artery, and hypoplastic left atrium by ECM histopathology.
Show the 41 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. It is a subline of b2b3077Clo. The molecular lesion for this subline is a G to T substitution at coding nucleotide 670 in exon 4 of the cDNA (c.670G>T, NM_009524). This changes the glutamic acid residue to a translation stop at position 224 of the encoded protein (p.E224*).
(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 Wnt5a Mutation: |
42 strains or lines available
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Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV) with hypoplastic pulmonary artery, persistent truncus arteriosus (PTA), and atrioventricular septal defect (AVSD), small left ventricle (LV).
Noncardiovascular phenotype: Severe craniofacial defect with short snout, micrognathia, cleft lip and palate, hypoplastic thymus, hypoplastic lungs, renal anomalies, short gut, club limbs, bobtail, and syndatcyly.
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