Hectd1b2b327Clo
Chemically induced Allele Detail
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| Symbol: |
Hectd1b2b327Clo |
| Name: |
HECT domain E3 ubiquitin protein ligase 1; Bench to Bassinet Program (B2B/CVDC), mutation 327 Cecilia Lo |
| MGI ID: |
MGI:5313700 |
| Gene: |
Hectd1 Location: Chr12:51790505-51876319 bp, - strand Genetic Position: Chr12, 22.11 cM
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| Alliance: |
Hectd1b2b327Clo page
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Mutant 327-007-1 shows hypoplasia of the ascending aorta.
Show the 12 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 T to A substitution at coding nucleotide 3264 in exon 22 of the cDNA (c.3264T>A, NM_144788). This changes the tyrosine residue to a translation stop at position 1088 of the encoded protein (p.Y1088*).
Additional
incidental mutations
were detected in sequencing for the causative mutation,
Hectd1b2b327Clo, 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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Summative Diagnosis:
Cardiovascular defects: Hypoplastic aorta, aortic atresia, dysplastic semilunar valves, overriding aorta, perimembranous (pmVSD) and muscular (mVSD) ventricular septal defects,and coronary fistula.
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Analysis Tools
