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Allele : Dync2h1<b2b414Clo> dynein cytoplasmic 2 heavy chain 1; Bench to Bassinet Program (B2B/CVDC), mutation 414 Cecilia Lo
Primary Identifier  MGI:5311370 Allele Type  Chemically induced (ENU)
Gene  Dync2h1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Mutant Phenotype 1: Cardiovascular defects: Pulmonary atresia with ventricular septal defect (VSD), atrioventricular septal defect (AVSD), major aortopulmonary collateral arteries (MAPCA), coronary fistula, dual inferior vena cavae (IVC) and single lung lobe. Non-cardiovascular defects: Micrognathia, hypotelorism, duplex kidney, polydactyly/syndactyly/oligodactyly, and tracheoesphageal fistula (TEF).
Mutant Phenotype 2: Kidney agenesis, craniofacial anomalies.

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
0110 Dextrocardia
1081 Tetralogy of Fallot with pulmonary atresia and mapcas
1120 Complete common atrioventricular canal
1124 Balanced complete atrioventricular canal
1125 Unbalanced complete atrioventricular canal, left dominant
1140 Common atrium
2230 Coronary fistula (arterio-venous or arterio-cameral)
2810 Inferior vena cava anomaly
3100 Congenital coronary anomaly
3804 Congenital heart disease
3986 {A,D,S}
4044 VATERS/VACTERLS Syndrome
4103 Polydactyly
4163 Micrognathia
4170 Hand and/or foot anomaly
4174 Syndactyly
4202 Tracheoesophageal fistula
4232 Airway malformation
4235 Pulmonary malformation
4338 Holoprosencephaly
4503 Agenesis of kidneys
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 A substitution at coding nucleotide 701 in exon 5 of the cDNA (c.701T>A, NM_029851). This changes the valine residue to glutamic acid at position 234 of the encoded protein (p.V234E).
  • mutations:
  • Single point mutation
  • synonyms:
  • Lucifer,
  • Lucifer,
  • Dync2h1<p.V234E>,
  • Dync2h1<p.V234E>
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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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Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele




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