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Allele : Fuz<b2b1273Clo> fuzzy planar cell polarity protein; Bench to Bassinet Program (B2B/CVDC), mutation 1273 Cecilia Lo
Primary Identifier  MGI:5311392 Allele Type  Chemically induced (ENU)
Gene  Fuz Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular defects: Pulmonary atresia, atrio-ventricular septal defects (AVSD), right aortic arch (RAA), vascular sling, and major aortopulmonary collarteral arteries (MAPCA).
Non-cardiovascular defects: central polydactyly, hypoplastic lung, liver isomerism, diaphragmatic hernia, short gut, tracheo-esophageal fistula (TEF)

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
1000 Pulmonary atresia congenital
1100 Atrioventricular canal (endocardial cushion defect)
2720 Right aortic arch
2771 Multiple major aortopulmonary collateral arteries (mapcas)
3804 Congenital heart disease
4202 Tracheoesophageal fistula
4103 Polydactyly
4400 Gastrointestinal anomaly
4447 Hepatic malformation
4864 Anophthalmia

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 nucleotide +2 after coding nucleotide 387 (c.387+2T>A, NM_027376.3) in intron 4. This changes splice donor site G-GT to G-GA (which is assumed to be much less efficient).
  • mutations:
  • Single point mutation
  • synonyms:
  • octomouse,
  • octomouse
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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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