Smad6^b2b390Clo
Chemically induced Allele Detail

Summary

• Symbol: Smad6^b2b390Clo
• Name: SMAD family member 6; Bench to Bassinet Program (B2B/CvDC), mutation 390 Cecilia Lo
• MGI ID: MGI:5316777
• Gene: Smad6 Location: Chr9:63860358-63929341 bp, - strand Genetic Position: Chr9, 34.4 cM, cytoband D
• Alliance: Smad6^b2b390Clo page

2D serial EFIC image stack in the coronal view of mutant 390-006-1 (E14.5) reveals DORV {SDD}, subaortic VSD, and interrupted aortic arch (IAA type c)
Click thumbnail to play movie.

Show the 7 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 A to T substitution at coding nucleotide 982 in exon 4 of the cDNA (c.982A>T, NM_008542). This changes the lysine residue to a stop at position 328 of the encoded protein (p.K328*). Additional incidental mutations were detected in sequencing for the causative mutation, Smad6^b2b390Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

3 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 Smad6 Mutation: 24 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular defects: Transposition of the great arteries (D-TGA), double outlet right ventricle (DORV), and ventricular septal defects (VSD).

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
0400	Tricuspid atresia
0600	Double outlet right ventricle
0700	D-loop transposition of the great arteries
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
1432	Overriding aortic valve
3804	Congenital heart disease

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)