Adamts6^b2b1879.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Adamts6^b2b1879.1Clo
• 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: Adamts6^b2b1879.1Clo 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)

Expression

In Structures Affected by this Mutation:

8 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)