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| Nomenclature |
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Symbol:
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Pkd1m1Bei
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Name:
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polycystic kidney disease 1 homolog;
mutation 1, David R Beier
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MGI ID: |
MGI:2152894 |
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Synonyms: |
line 172, Pkd1- |
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Gene:
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Pkd1
Location:
Chr17:24549950-24596514 bp, + strand
Genetic Position: Chr17,
12.4 cM
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Mutation
origin |
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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 shown by complementation testing to be an allele of Pkd1. Molecular analysis determined that a T to G transversion mutation at position 9248 results in a methionine to arginine substitution in the first transmemebrane domain of the encoded protein. A similar mutation is found in humans. (J:75360)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:75360
Herron BJ et al.,
"Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis."
Nat Genet 2002 Feb;30(2):185-9
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All: |
8 reference(s)
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Analysis Tools
