Hectd1^b2b327Clo
Chemically induced Allele Detail

Summary

• Symbol: Hectd1^b2b327Clo
• 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
• Alliance: Hectd1^b2b327Clo page

Mutant 327-007-1 shows hypoplasia of the ascending aorta.

Show the 12 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. 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, Hectd1^b2b327Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

5 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 Hectd1 Mutation: 142 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular defects: Hypoplastic aorta, aortic atresia, dysplastic semilunar valves, overriding aorta, perimembranous (pmVSD) and muscular (mVSD) ventricular septal defects,and coronary fistula.

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
0320	Aortic atresia
1310	Ventricular septal defect, membranous
1602	Dysplastic pulmonary valve
2230	Coronary fistula (arterio-venous or arterio-cameral)
2703	Hypoplasia ascending aorta
3804	Congenital heart disease

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)