Pcsk5^b2b585Clo
Chemically induced Allele Detail

Summary

• Symbol: Pcsk5^b2b585Clo
• 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
• Alliance: Pcsk5^b2b585Clo page

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 details: This 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, Pcsk5^b2b585Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

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: 96 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). 2011-09-12
• All: 2 reference(s)