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| Nomenclature |
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Symbol:
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Pkhd1tm1.1Ggg
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Name:
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polycystic kidney and hepatic disease 1;
targeted mutation 1.1, Gregory G Germino
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MGI ID: |
MGI:3759215 |
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Synonyms: |
Pkhd1del3-4 |
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Gene:
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Pkhd1
Location:
Chr1:20057779-20618064 bp, - strand
Genetic Position: Chr1,
6.27 cM, cytoband A2-A5
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:125113
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/SvEv
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Mutation
description |
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Allele
Type: | |
Targeted (other) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Exon 3 and 4 wwere removed by cre-mediated recombination using the B6.129S4-Meox2tm1(cre)Sor line. The protein product is predicted to include the signal sequence but lack an adjacent 123 amino acid fragment of the extracellular domain. Authors suggest that this represents a hypomorphic allele. Production of a shortened transcript was confirmed by RT-PCR using kidney tissue. (J:125113)
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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 Pkhd1 Mutation:
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10 strains or lines available |
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| References |
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Original: |
J:125113
Garcia-Gonzalez MA et al.,
"Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway."
Hum Mol Genet 2007 Aug 15;16(16):1940-50
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All: |
1 reference(s)
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Analysis Tools
