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Pcsk5b2b1549Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Pcsk5b2b1549Clo
Name: proprotein convertase subtilisin/kexin type 5; Bench to Bassinet Program (B2B/CVDC), mutation 1549 Cecilia Lo
MGI ID: MGI:5430343
Synonyms: Horseshoe
Gene: Pcsk5  Location: Chr19:17432832-17837632 bp, - strand  Genetic Position: Chr19, 12.86 cM
Mutant 1549-002-NB displays TGA (confirmed by EFIC), dual IVC and abnormal lung lobation

Show the 14 image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Pcsk5 Mutation:  5 strains or lines available
Notes
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

Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia, Heterotaxy

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

References
Original:  J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory