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Smad6b2b390Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Smad6b2b390Clo
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
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)
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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 detailsThis 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, Smad6b2b390Clo, 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: 3 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 Smad6 Mutation:  15 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). 2011-15;
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