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| Nomenclature |
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Symbol:
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Pcsk5b2b585Clo
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Name:
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proprotein convertase subtilisin/kexin type 5;
Bench to Bassinet Program (B2B/CVDC), mutation 585 Cecilia Lo
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MGI ID: |
MGI:5313702 |
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Synonyms: |
McRib |
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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 line 585 reveals mesocardia or dextrocardia with double aortic arch (AA).
Show the 11 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. It one mutation identified in the line b2b585Clo. The molecular lesion is a A-to-G single point mutation at position 521 of the cDNA (c.A521G, NM_001163144) that is predicted to cause an aspartic acid to a glycine substitution at position 174 of the encoded protein (p.D174G).
(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:
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.
Phenotypic Similarity to Human Syndrome: VACTERL/VATER
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Analysis Tools
