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Allele : Drc1<b2b2237Clo> dynein regulatory complex subunit 1; Bench to Bassinet Program (B2B/CVDC), mutation 2237 Cecilia Lo
Primary Identifier  MGI:5552738 Allele Type  Chemically induced (ENU)
Gene  Drc1 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Laterality defect with dextrocardia associated with situs inversus totalis
Noncardiovascular Phenotype: Visceral organ situs inversus

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
0110 Dextrocardia
3816 Abdominal situs inversus
3974 {I,L,I}
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
4906 Non-cardiac abnormality

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 2033 in exon 15 of the cDNA (c.2033T>A, NM_001033460). This changes the leucine residue to glutamine at position 678 of the encoded protein (p.L678Q).
  • mutations:
  • Single point mutation
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Trail: Allele

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0 Mutation Involves

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