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Tab1b2b449Clo
Chemically induced Allele Detail
Nomenclature
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
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.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis 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.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Tab1 Mutation:  83 strains or lines available
Notes
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

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0520 Truncus arteriosus type ii
1241 Transverse arch obstruction
1252 Interrupted aortic arch type b
1300 Ventricular septal defect
1432 Overriding aortic valve

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory