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| Nomenclature |
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Symbol:
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Pdk1b2b1585Clo
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Name:
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pyruvate dehydrogenase kinase, isoenzyme 1;
Bench to Bassinet Program (B2B/CVDC), mutation 1585 Cecilia Lo
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MGI ID: |
MGI:5438059 |
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Synonyms: |
Popcorn |
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Gene:
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Pdk1
Location:
Chr2:71873224-71903858 bp, + strand
Genetic Position: Chr2,
42.84 cM
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Mutant 1585-003-NA displays highly cystic kidneys
Show the 10 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 11084 of the cDNA (c.T11084A, NM_013630) that is predicted to cause a isoleucine to asparagine amino acid substitution at position 3695 of the encoded protein (p.I3695N). (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:
Cardiac phenotype: Biventricular hypertrophy
Noncardiac phenotype: Polycystic kidney disease, cystic lungs, short limbs, short snout/micrognathia
Phenotypic Similarity to Human Syndrome: Polycystic kidney disease, hypertrophic cardiomyopathy
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Analysis Tools
