Zfp366^b2b2834Clo
Chemically induced Allele Detail

Summary

• Symbol: Zfp366^b2b2834Clo
• Name: zinc finger protein 366; Bench to Bassinet Program (B2B/CVDC), mutation 2834 Cecilia Lo
• MGI ID: MGI:5645262
• Gene: Zfp366 Location: Chr13:99321331-99383540 bp, + strand Genetic Position: Chr13, 52.25 cM
• Alliance: Zfp366^b2b2834Clo page

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 details: 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). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

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: 33 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). 2011-09-12
• All: 2 reference(s)