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| Nomenclature |
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Symbol:
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Pcsk5b2b1549Clo
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Name:
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proprotein convertase subtilisin/kexin type 5;
Bench to Bassinet Program (B2B/CVDC), mutation 1549 Cecilia Lo
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MGI ID: |
MGI:5430343 |
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Synonyms: |
Horseshoe |
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Gene:
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Pcsk5
Location:
Chr19:17432832-17837632 bp, - strand
Genetic Position: Chr19,
12.86 cM
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Mutant 1549-002-NB displays TGA (confirmed by EFIC), dual IVC and abnormal lung lobation
Show the 14 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T-to-A single point mutation at position 4795 of the cDNA (c.T4795A, NM_001190483) that is predicted to cause a cysteine to serine amino acid substitution at position 1599 of the encoded protein (p.C1599S). (J:175213)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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
Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia, Heterotaxy
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Analysis Tools
