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Allele : Zfp366<b2b2834Clo> zinc finger protein 366; Bench to Bassinet Program (B2B/CVDC), mutation 2834 Cecilia Lo
Primary Identifier  MGI:5645262 Allele Type  Chemically induced (ENU)
Gene  Zfp366 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular phenotypes: Perimembranous and muscular ventricular septal defects (VSD), and overriding aorta.

Noncardiovascular phenotype: Short snout, micrognathia, micropthalmia, hypoplastic thymus, and hydronephrosis.

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 Codes Code Description
1300 Ventricular septal defect
1432 Overriding aortic valve
4163 Micrognathia
4174 Syndactyly
4502 Hydronephrosis
4610 DiGeorge syndrome
4877 Microphthalmia
4906 Non-cardiac abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G to T substitution at coding nucleotide 1415 in exon 3 of the cDNA (c.1415G>T, NM_001004149). This changes the arginine residue to leucine at position 472 of the encoded protein (R472L).
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

4 Publication categories





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