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Allele : Dnm2<b2b2159Clo> dynamin 2; Bench to Bassinet Program (B2B/CVDC) mutation 2159, Cecilia Lo
Primary Identifier  MGI:5491244 Allele Type  Chemically induced (ENU)
Gene  Dnm2 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Boo,
  • Boo
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories





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