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| Nomenclature |
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Symbol:
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Inpp5btm1Nbm
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Name:
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inositol polyphosphate-5-phosphatase B;
targeted mutation 1, Robert L Nussbaum
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MGI ID: |
MGI:2159609 |
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Synonyms: |
Inpp5b- |
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Gene:
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Inpp5b
Location:
Chr4:124741850-124801511 bp, + strand
Genetic Position: Chr4,
57.89 cM, cytoband D2
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:47884
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Parent Cell Line:
| TC1/TC-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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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: A truncated PGK-neomycin resistance cassette and a 17 bp sequence that contains stop codons in all three frames was introduced into sequence corresponding to exon 13 of human gene. Northern blot analysis detected both forms of transcript in brain from 3 week old homozygous mice. In kidney, spleen, and liver from these mice, both transcripts were reduced or absent. RT-PCR studies using primers spanning the region of the exon carrying the PGK-neo insertion detected markedly reduced amounts of a shorter product amplified from this allele in kidney, spleen, and liver from homozygous mutant mice compared with wild-type mice, whereas in brain apparently equal amounts of the wild-type and the shorter product were amplified. The shorter product was found to be lacking a 30 bp sequence that could be translated to make a protein that lacks ten amino acid residues in a highly conserved domain shared by OCRL. The authors propose that the 17 bp insertion created a consensus 5' splice site that would splice out the PGK-neo sequence, the three-frame stop codons, and 30 nucleotides from the 3' part of the exon. (J:47884)
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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 Inpp5b Mutation:
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20 strains or lines available |
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| References |
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Original: |
J:47884
Janne PA et al.,
"Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice."
J Clin Invest 1998 May 15;101(10):2042-53
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All: |
5 reference(s)
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Analysis Tools
