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Allele : Zbtb14<b2b1982Clo> zinc finger and BTB domain containing 14; Bench to Bassinet Program (B2B/CVDC) mutation 1982, Cecilia Lo
Primary Identifier  MGI:5476175 Allele Type  Chemically induced (ENU)
Gene  Zbtb14 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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*).
  • mutations:
  • Single point mutation
  • synonyms:
  • Bandana,
  • Bandana
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories





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