Adamts6^b2b2966.2Clo
Chemically induced Allele Detail

Summary

• Symbol: Adamts6^b2b2966.2Clo
• Name: ADAM metallopeptidase with thrombospondin type 1 motif 6; Bench to Bassinet Program (B2B/CVDC), mutation 2966, subline 2 Cecilia Lo
• MGI ID: MGI:5646302
• Gene: Adamts6 Location: Chr13:104424343-104633203 bp, + strand Genetic Position: Chr13, 56.42 cM
• Alliance: Adamts6^b2b2966.2Clo page

Mutant 2966-004-1 (E15.5) exhibits hydrops, abnormally attached hindlimbs, short snout, and micrognathia.

Show the 3 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 b2b2966Clo. The molecular lesion for this subline is attributed to 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:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Adamts6 Mutation: 61 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: 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.

Phenotypic Similarity to Human Syndrome:
Arthrogryposis multiplex congenita

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)