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Chemically induced Allele Detail
Symbol: Pcsk5b2b585Clo
Name: proprotein convertase subtilisin/kexin type 5; Bench to Bassinet Program (B2B/CVDC), mutation 585 Cecilia Lo
MGI ID: MGI:5313702
Synonyms: McRib
Gene: Pcsk5  Location: Chr19:17432832-17837632 bp, - strand  Genetic Position: Chr19, 12.86 cM
Mutant line 585 reveals mesocardia or dextrocardia with double aortic arch (AA).

Show the 11 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. It one mutation identified in the line b2b585Clo. The molecular lesion is a A-to-G single point mutation at position 521 of the cDNA (c.A521G, NM_001163144) that is predicted to cause an aspartic acid to a glycine substitution at position 174 of the encoded protein (p.D174G). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Pcsk5b2b585Clo, and may be present in stocks carrying this mutation.
View phenotypes for all genotypes (concatenated display).
Disease models
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
Summative Diagnosis:
Cardiovascular defects: Mesocardia/dextrocardia, persistent truncus arteriosus (PTA), double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), double aortic arch (AA)
Non-cardiovascular defects: Tracheal agenesis with tracheoesophageal fistula (TEF), limb defects with syndactyly, kidney agenesis, supernumerary ribs, no tail.

Phenotypic Similarity to Human Syndrome: VACTERL/VATER

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
0140 Mesocardia
0500 Truncus arteriosus
0600 Double outlet right ventricle
2761 Double aortic arch
4100 Skeletal, skin, muscle anomaly
4103 Polydactyly
4202 Tracheoesophageal fistula
4443 Anal atresia
4503 Agenesis of kidneys

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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory