|  Help  |  About  |  Contact Us

Allele : Pcsk5<b2b1549Clo> proprotein convertase subtilisin/kexin type 5; Bench to Bassinet Program (B2B/CVDC), mutation 1549 Cecilia Lo
Primary Identifier  MGI:5430343 Allele Type  Chemically induced (ENU)
Gene  Pcsk5 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Heterotaxia with congenital heart diseases including dextrocardia/mesocardia, transposition of the great arteries (TGA), or double outlet right ventricle (DORV) and atrioventricular septal defect (AVSD)
Non-cardiac phenotype: Immotile, hyperkinetic and dyskinetic airway cilia

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
0110 Dextrocardia
140 Mesocardia
0190 Heterotaxy Syndrome
3804 Congenital heart disease
0606 DORV + AVSD (AV canal)
0700 D-loop transposition of the great arteries

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 4795 in exon 35 of the cDNA (c.4795T>A, NM_001190483). This changes the cysteine residue to serine at position 1599 of the encoded protein (p.C1599S). 
  • mutations:
  • Single point mutation
  • synonyms:
  • Horseshoe,
  • Horseshoe
Paste the following link
Quick Links:
SummaryGenomePhenotypeOther
 
Quick Links:
SummaryGenomePhenotypeOther
 
Lists
This Allele isn't in any lists. Upload a list.

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

4 Publication categories





MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom