Tab1^b2b449Clo
Chemically induced Allele Detail

Summary

• Symbol: Tab1^b2b449Clo
• 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
• Alliance: Tab1^b2b449Clo page

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 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, Tab1^b2b449Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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: 90 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). 2011-09-12
• All: 2 reference(s)