Pcsk5^b2b1549Clo
Chemically induced Allele Detail

Summary

• Symbol: Pcsk5^b2b1549Clo
• 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
• Alliance: Pcsk5^b2b1549Clo page

Mutant 1549-002-NB displays TGA (confirmed by EFIC), dual IVC and abnormal lung lobation

Show the 14 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 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, Pcsk5^b2b1549Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

3 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:
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

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)