About   Help   FAQ
Adamts6b2b2182Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Adamts6b2b2182Clo
Name: a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6; Bench to Bassinet Program (B2B/CVDC), mutation 2182 Cecilia Lo
MGI ID: MGI:5491254
Synonyms: Heimlich
Gene: Adamts6  Location: Chr13:104287835-104496695 bp, + strand  Genetic Position: Chr13, 56.42 cM
Mutant 2182-003-1 (E15.5) has a dilated pulmonary artery and an overriding aorta diagnosed by EFIC imaging

Show the 11 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 C to G substitution at coding nucleotide 447 in exon 3 of the cDNA (c.447C>G, NM_001081020). This changes the serine residue to arginine at position 149 of the encoded protein (p.S149R). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Adamts6b2b2182Clo, and may be present in stocks carrying this mutation.
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 10 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 Adamts6 Mutation:  8 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular Phenotype: Overriding aorta/Double outlet right ventricle (DORV) with ventricular septal defects (subaortic, perimembranous, and muscular), atrioventricular septal defects (AVSD), and biventricular hypertrophy
Noncardiovascular Phenotype: Abnormal flexure of the hindlimbs, hydrops, midline fusion defect of the sternal vertebra, hypoplastic thymus, short snout, and cleft palate

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
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1300 Ventricular septal defect
1310 Ventricular septal defect, membranous
1320 Ventricular septal defect, muscular
1432 Overriding aortic valve
4100 Skeletal, skin, muscle anomaly
4876 Cleft palate
4906 Non-cardiac abnormality
7505 Biventricular hypertrophy

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:  3 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/05/2019
MGI 6.14
The Jackson Laboratory