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| Nomenclature |
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Symbol:
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Nphp1tm1.1Hung
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Name:
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nephronophthisis 1 (juvenile) homolog (human);
targeted mutation 1.1, Hung Li
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MGI ID: |
MGI:3813273 |
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Synonyms: |
Nphp1del20 |
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Gene:
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Nphp1
Location:
Chr2:127740732-127788897 bp, - strand
Genetic Position: Chr2,
62.09 cM, cytoband F3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:140205
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: Nphp1tm1Hung homozygotes were crossed with a cre transgenic strain to remove exon 20. This exon contains the polyadenylation signal so upon its excision, a truncated transcript with a shorter half-life was predicted to occur. While truncated mRNA was detectable, immunoblotting testes extract with thee different antibodies failed to detect any full length or truncated protein. (J:140205)
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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 Nphp1 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:140205
Jiang ST et al.,
"Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice."
Hum Mol Genet 2008 Nov 1;17(21):3368-79
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All: |
2 reference(s)
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Analysis Tools
