Ocrl^tm2Nbm
Targeted Allele Detail

Summary

• Symbol: Ocrl^tm2Nbm
• Name: OCRL, inositol polyphosphate-5-phosphatase; targeted mutation 2, Robert L Nussbaum
• MGI ID: MGI:2159678
• Synonyms: Ocrl1-, Ocrl1^polyA-
• Gene: Ocrl Location: ChrX:47001264-47054745 bp, + strand Genetic Position: ChrX, 25.43 cM
• Alliance: Ocrl^tm2Nbm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47884
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A truncated PGK-neomycin resistance cassette lacking its polyadenylation sequence replaced exon 20 and half of exons 19 and 21, and placed an in frame stop codon into exon 19. Western blot analysis did not detect protein in any organs from hemizygous mutant male mice. (J:47884)

Expression

In Mice Carrying this Mutation:

7 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 Ocrl Mutation: 10 strains or lines available

References

• 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: 2 reference(s)