Pkd1tm1.1Pcha
Targeted Allele Detail
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Symbol: |
Pkd1tm1.1Pcha |
Name: |
polycystin 1, transient receptor potential channel interacting; targeted mutation 1.1, Peter Harris |
MGI ID: |
MGI:5476822 |
Synonyms: |
Pkd1RC |
Gene: |
Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
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Alliance: |
Pkd1tm1.1Pcha page
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Illustration of polycystic kidney disease progression and variation in Pkd1tm1.1Pcha/Pkd1tm1.1Pcha mice
Show the 11 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:193544
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
129
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Allele Type: |
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Targeted (Not Applicable) |
Mutations: |
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Insertion, Nucleotide substitutions
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Mutation details: Exon 29 was replaced with a modified exon in which arginine codon 3269 (AGA) was changed to cysteine (TGC) (c.9805.9807AGA>TGC, p.R3269C), which corresponds to the human autosomal dominant polycystic kidney disease (ADPKD)-associated p.R3277C mutation. Cre-mediated recombination removed a floxed puromycin cassette inserted downstream of exon 30.
(J:193544)
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Generation of the Pkd1tm1.1Pcha allele |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Pkd1 Mutation: |
153 strains or lines available
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Original: |
J:193544 Hopp K, et al., Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest. 2012 Nov 1;122(11):4257-73 |
All: |
21 reference(s) |
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