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Allele : Ift74<b2b796Clo> intraflagellar transport 74; Bench to Bassinet Program (B2B/CVDC), mutation 796 Cecilia Lo
Primary Identifier  MGI:5311374 Allele Type  Chemically induced (ENU)
Gene  Ift74 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotype: Heterotaxy syndrome (ambiguous lung lobation) with congenital heart disease: Double outlet right ventricle (DORV), atrial-ventricular septal defect (AVSD) and dual inferior vena cava (IVC)

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
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
1140 Common atrium
2810 Inferior vena cava anomaly
3804 Congenital heart disease
4235 Pulmonary 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 coding nucleotide 1645 in exon 19 of the cDNA (c.1645T>C, NM_026319). This changes the tryptophan residue to arginine at position 549 of the encoded protein (p.W549R).
  • mutations:
  • Single point mutation
  • synonyms:
  • Princess Leia,
  • Princess Leia
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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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