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Targeted Allele Detail
Symbol: Inpp5btm1Nbm
Name: inositol polyphosphate-5-phosphatase B; targeted mutation 1, Robert L Nussbaum
MGI ID: MGI:2159609
Synonyms: Inpp5b-
Gene: Inpp5b  Location: Chr4:124741850-124801511 bp, + strand  Genetic Position: Chr4, 57.89 cM, cytoband D2
Germline Transmission:  Earliest citation of germline transmission: J:47884
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 10 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Inpp5b Mutation:  43 strains or lines available
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
All:  5 reference(s)

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MGI 6.11
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