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Dnm2b2b2159Clo
Chemically induced Allele Detail
Summary
Symbol: Dnm2b2b2159Clo
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: Dnm2b2b2159Clo 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 detailsThis 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, Dnm2b2b2159Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 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:  99 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory