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Adamts6b2b1879.1Clo
Chemically induced Allele Detail
Summary
Symbol: Adamts6b2b1879.1Clo
Name: ADAM metallopeptidase with thrombospondin type 1 motif 6; Bench to Bassinet Program (B2B/CVDC), mutation 1879.1 Cecilia Lo
MGI ID: MGI:5476179
Gene: Adamts6  Location: Chr13:104424343-104633203 bp, + strand  Genetic Position: Chr13, 56.42 cM
Alliance: Adamts6b2b1879.1Clo page
Mutant 1879-002-NA shows abnormal placement of the outflow with malformed pulmonary trunk and is diagnosed with DORV by EFIC imaging

Show the 23 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. It is a subline of b2b1879Clo. The molecular lesion for this subline 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)
Phenotypes
Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
hm1
Adamts6b2b1879.1Clo/Adamts6b2b1879.1Clo
C57BL/6J-Adamts6b2b1879.1Clo
 
Phenotypes:
Affected Systems
hm1
show or hide all annotated terms
 
cardiovascular system
√
heart left ventricle hypertrophy
√
heart right ventricle hypertrophy
√
double outlet right ventricle
√
double outlet right ventricle with atrioventricular septal defect
√
overriding aortic valve
√
atrioventricular septal defect
√
ventricular septal defect
√
perimembraneous ventricular septal defect
√
muscular ventricular septal defect
√
craniofacial
√
cleft palate
√
short snout
√
digestive/alimentary system
√
cleft palate
√
endocrine/exocrine glands
√
thymus hypoplasia
√
growth/size/body
√
heart left ventricle hypertrophy
√
heart right ventricle hypertrophy
√
cleft palate
√
short snout
√
hematopoietic system
√
thymus hypoplasia
√
homeostasis/metabolism
√
hydrops fetalis
√
immune system
√
thymus hypoplasia
√
limbs/digits/tail
√
abnormal hindlimb morphology
√
muscle
√
heart left ventricle hypertrophy
√
heart right ventricle hypertrophy
√
skeleton
√
abnormal vertebrae morphology
√
View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 10 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 Adamts6 Mutation:  61 strains or lines available
Notes
This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1879Clo.
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). 2011-09-12;
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)
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Funding Information
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12/17/2024
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