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Chemically induced Allele Detail
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: Chr19:17409683-17814996 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 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsThis 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Pcsk5b2b1549Clo, and may be present in stocks carrying this mutation.
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 2 anatomical structures
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:  57 strains or lines available
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

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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.21
The Jackson Laboratory