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Zfp366b2b2834Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Zfp366b2b2834Clo
Name: zinc finger protein 366; Bench to Bassinet Program (B2B/CVDC), mutation 2834 Cecilia Lo
MGI ID: MGI:5645262
Gene: Zfp366  Location: Chr13:99184823-99247032 bp, + strand  Genetic Position: Chr13, 52.25 cM
Mutant 2834-003-3 (E14.5) presents with parallel great arteries, which is diagnosed as an overriding aorta by episcopic confocal histopathology

Show the 17 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis 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). (J:175213)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Zfp366 Mutation:  22 strains or lines available
Notes
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

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory