Adamts6b2b2029Clo
Chemically induced Allele Detail
|
Symbol: |
Adamts6b2b2029Clo |
Name: |
ADAM metallopeptidase with thrombospondin type 1 motif 6; Bench to Bassinet Program (B2B/CVDC), mutation 2029 Cecilia Lo |
MGI ID: |
MGI:5487287 |
Synonyms: |
Peep |
Gene: |
Adamts6 Location: Chr13:104424343-104633203 bp, + strand Genetic Position: Chr13, 56.42 cM
|
Alliance: |
Adamts6b2b2029Clo page
|
|
Mutant 2029-003-NC exhibits a dilated right ventricle (RV), malaligned great arteries, which is confirmed as double outlet right ventricle by EFIC imaging. The pulmonary artery is dilated, while the ascending aorta is hypoplastic.
Show the 16 phenotype image(s) involving this allele.
|
|
|
Strain of Origin: |
C57BL/6J
|
Project Collection: |
B2B/CvDC
|
|
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. 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,
Adamts6b2b2029Clo, and may be present in stocks carrying this mutation.
|
|
|
View phenotypes and curated references for all genotypes (concatenated display).
|
|
|
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
|