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Allele : Rfx3<b2b1213Clo> regulatory factor X, 3 (influences HLA class II expression); Bench to Bassinet Program (B2B/CVDC), mutation 1213 Cecilia Lo
Primary Identifier  MGI:5560494 Allele Type  Chemically induced (ENU)
Gene  Rfx3 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Heterotaxy with hypertrophic cardiomyopathy and ventricular septal defect (VSD)
Noncardiovascular phenotype: Abnormal visceral organ situs

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
0190 Heterotaxy syndrome
1300 Ventricular septal defect
1845 Hypertrophic cardiomyopathy

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 826 in exon 7 of the cDNA (c.826C>T, NM_011265). This changes the glutamine residue to a translation stop at position 276 in the encoded protein (p.Q276*).
  • mutations:
  • Single point mutation
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Trail: Allele

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0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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