Tab1b2b449Clo
Chemically induced Allele Detail
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Symbol: |
Tab1b2b449Clo |
Name: |
TGF-beta activated kinase 1/MAP3K7 binding protein 1; Bench to Bassinet Program (B2B/CVDC), mutation 449 Cecilia Lo |
MGI ID: |
MGI:5314079 |
Gene: |
Tab1 Location: Chr15:80017333-80045908 bp, + strand Genetic Position: Chr15, 37.85 cM, cytoband E2
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Alliance: |
Tab1b2b449Clo page
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Mutant 449-005-1 (E16.5) exhibit interrupted aortic arch (IAA) and malalignment of the great arteries, which was shown to be double outlet right ventricle (DORV) by EFIC analysis.
Show the 21 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 a T to A substitution at coding nucleotide 935 in exon 9 of the cDNA (c.935T>A, NM_025609). This changes the methionine residue to lysine at position 312 of the encoded protein (p.M312K).
(J:175213)
Additional
incidental mutations
were detected in sequencing for the causative mutation,
Tab1b2b449Clo, 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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Summative Diagnosis:
Cardiovascular defects: Persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), Overriding aorta, aortic arch anomalies such as hypoplastic transverse arch, interrupted aortic arch (IAA), vascular sling
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