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Allele : Dctn5<b2b315Clo> dynactin 5; Bench to Bassinet Program (B2B/CVDC), mutation 315 Cecilia Lo
Primary Identifier  MGI:5313698 Allele Type  Chemically induced (ENU)
Gene  Dctn5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defect: Double outlet right ventricle (DORV), overriding aorta, and ventricular septal defect (VSD)
Non-Cardiovascular defect: Micrognathia, microcephaly/anencephaly, holoprosencephaly.

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
0100 Situs inversus totalis
0602 DORV, ventricular defect committed to aorta
1310 Ventricular septal defect, membranous
1432 Overriding aortic valve
3804 Congenital heart disease
4508 Polycystic kidney disease
4863 Opthalmic malformation
4874 Mouth malformation

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at nucleotide +6 following coding nucleotide 348 (c.348+6T>C, NM_021608) in intron 4. This may affect splicing from the nearby splice donor site.
  • mutations:
  • Single point mutation
  • synonyms:
  • Nemo,
  • Nemo
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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