Zbtb14^b2b1982Clo
Chemically induced Allele Detail

Summary

• Symbol: Zbtb14^b2b1982Clo
• Name: zinc finger and BTB domain containing 14; Bench to Bassinet Program (B2B/CVDC) mutation 1982, Cecilia Lo
• MGI ID: MGI:5476175
• Synonyms: Bandana
• Gene: Zbtb14 Location: Chr17:69690170-69697747 bp, + strand Genetic Position: Chr17, 40.42 cM
• Alliance: Zbtb14^b2b1982Clo page

Mutant 1982-002-NA shows parallel outflow tracts which was shown to be DORV by EFIC histopathology analysis

Show the 10 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 C to A substitution at coding nucleotide position 419 in exon 3 of the cDNA (c.419C>A, NM_009547). This changes the serine residue to a stop codon at position 140 of the encoded protein (p.S140*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Zbtb14^b2b1982Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Zbtb14 Mutation: 46 strains or lines available

Notes

Summative Diagnosis:
Mutant Type 1: Cardiac phenotype: Double outlet right ventricle (DORV), perimembranous ventricular septal defect (pmVSD), atrioventricular septal defect (AVSD), thickened atrioventricular and semilunar valves
Non-Cardiac phenotype: Excencephaly, kidney abnormalities including duplex kidney, hydronephrosis, cystic kidney

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
0600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1310	Ventricular septal defect, membranous
4502	Hydronephrosis

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: 3 reference(s)