Dnm2^b2b2159Clo
Chemically induced Allele Detail

Summary

• Symbol: Dnm2^b2b2159Clo
• Name: dynamin 2; Bench to Bassinet Program (B2B/CVDC) mutation 2159, Cecilia Lo
• MGI ID: MGI:5491244
• Synonyms: Boo
• Gene: Dnm2 Location: Chr9:21336204-21419055 bp, + strand Genetic Position: Chr9, 7.79 cM
• Alliance: Dnm2^b2b2159Clo page

Mutant 2159-003-2 (E16.5) shows parallel outflow tracts which is diagnosed as DORV by EFIC imaging

Show the 19 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 nucleotide +6 after coding nucleotide 1196 (c.1196+6T>A, NM_001039520) in intron 9. This may affect splicing from the nearby splice donor site. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dnm2^b2b2159Clo, and may be present in stocks carrying this mutation.

Disease models

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Dnm2 Mutation: 100 strains or lines available

Notes

Summative Diagnosis:
Cardiac Phenotype: Double outlet right ventricle (DORV) with subaortic ventricular septal defect (VSD), hypoplastic aorta, overriding aorta, perimembranous ventricular septal defect (pmVSD), muscular VSD (mVSD), retroesophageal subclavian forming vascular ring
Non-Cardiac Phenotype: Renal anomalies with cystic kidney and hydronephrosis, cleft palate, hydrocephalus, encephalocele, microphthalmia

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
0600	Double outlet right ventricle
1300	Ventricular septal defect
2760	Vascular ring
4508	Polycystic kidney disease
4876	Cleft palate

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)