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| Nomenclature |
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Symbol:
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Pkd1tm3.1Jzh
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Name:
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polycystic kidney disease 1 homolog;
targeted mutation 3.1, Jing Zhou
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MGI ID: |
MGI:3811234 |
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Synonyms: |
Pkd1del2-6 |
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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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Germline Transmission:
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Earliest citation of germline transmission:
J:140012
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Parent Cell Line:
| E14 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: A loxP-flanked neomycin selection cassette was inserted into the EcoRI site located 1.2 kb upstream of exon 2, and a third loxP site placed downstream of exon 6. Chimeric mice were crossed with Tg(Prm-cre)58Og transgenic mice that express cre recombinase in male germ cells. Offspring were selected that had exons 2 through 6 excised. RT-PCR analysis of kidney mRNA demonstrated a truncated mRNA where exon 1 splices to exon 8 resulting in a premature stop codon. Immunoblot assays on homozygote kidney extracts demonstrate no protein expression by this mutant allele. (J:140012)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Pkd1 Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:140012
Starremans PG et al.,
"A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1."
Kidney Int 2008 Jun;73(12):1394-405
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All: |
3 reference(s)
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Analysis Tools
