Adamts6b2b2744Clo
Chemically induced Allele Detail
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Symbol: |
Adamts6b2b2744Clo |
Name: |
ADAM metallopeptidase with thrombospondin type 1 motif 6; Bench to Bassinet Program (B2B/CVDC), mutation 2744 Cecilia Lo |
MGI ID: |
MGI:5560500 |
Gene: |
Adamts6 Location: Chr13:104424343-104633203 bp, + strand Genetic Position: Chr13, 56.42 cM
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Alliance: |
Adamts6b2b2744Clo page
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Mutant 2744-002-1 (E15.5) presents with hypoplastic PA, parallel outflow tracts, and thin ventricle walls which is diagnosed as DORV and ventricular non-compaction by EFIC imaging
Show the 11 phenotype image(s) involving this allele.
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Strain of Origin: |
C57BL/6J
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Project Collection: |
B2B/CvDC
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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Single point mutation
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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,
Adamts6b2b2744Clo, and may be present in stocks carrying this mutation.
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Adamts6 Mutation: |
61 strains or lines available
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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
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