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Pcsk5b2b585Clo
Chemically induced Allele Detail
Nomenclature
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: Chr19:17409683-17814996 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.

Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Mutation
description
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 an A to G substitution at coding nucleotide 521 in exon 4 of the cDNA (c.521A>G, NM_001163144). This changes the aspartic acid residue to glycine 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.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 12 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
Notes
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.

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
4044 VATERS/VACTERLS Syndrome
4100 Skeletal, skin, muscle anomaly
4103 Polydactyly
4202 Tracheoesophageal fistula
4443 Anal atresia
4503 Agenesis of kidneys

References
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
11/30/2021
MGI 6.17
The Jackson Laboratory