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| Nomenclature |
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Symbol:
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Nphp3tm1Cbe
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Name:
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nephronophthisis 3 (adolescent);
targeted mutation 1, Carsten Bergmann
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MGI ID: |
MGI:3809285 |
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Gene:
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Nphp3
Location:
Chr9:104002544-104043730 bp, + strand
Genetic Position: Chr9,
56.11 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:139258
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Parent Cell Line:
| HM-1 (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd-Hprtb-m3
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: An IRES-LacZ-neo cassette was inserted into exon 3 and exons 4 and 5 and introns 3 and 4 were removed via homologous recombination. Western blot analysis confirmed absence of protein expression in homozygous embryos. (J:139258)
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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 Nphp3 Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:139258
Bergmann C et al.,
"Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia."
Am J Hum Genet 2008 Apr;82(4):959-70
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All: |
1 reference(s)
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Analysis Tools
