Pcsk6^b2b2830Clo
Chemically induced Allele Detail

Summary

• Symbol: Pcsk6^b2b2830Clo
• Name: proprotein convertase subtilisin/kexin type 6; Bench to Bassinet Program (B2B/CVDC), mutation 2830 Cecilia Lo
• MGI ID: MGI:5618292
• Gene: Pcsk6 Location: Chr7:65511884-65700134 bp, + strand Genetic Position: Chr7, 35.36 cM
• Alliance: Pcsk6^b2b2830Clo page

Mutant (E14.5) shows a malrotated heart which is diagnosed as superior-inferior ventricles by ECM histopathology.

Show the 13 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: Undefined
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G-to-A single point mutation at position 73104029, exon 8, nucleotide 1013 of the cDNA that is predicted to convert G-to-D at position 338 of the encoded protein (exon8:c.G1013A:p.G338D, NM_011048).The mutant phenotype is attributed to a mutation in the Pcsk6 gene. (J:175213)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pcsk6 Mutation: 94 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Complex congenital disease associated with heterotaxy, such as double outlet right ventricle (DORV), hypoplastic left ventricle, common atrium, atrioventricular septal defect (AVSD), total anomalous pulmoary venous return (TAPVR), superior-inferior ventricles.

Noncardiovascular phenotype: microcephaly, anencephaly, anophthalmia/micophthalmia, cycoplasia, agnathia, low-set ears, hypoplastic thymus

Phenotypic Similarity to Human Syndrome:
Otocephaly, Heterotaxy syndrome

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)