Plekhm1^tm1.2Hzhao
Targeted Allele Detail

Summary

• Symbol: Plekhm1^tm1.2Hzhao
• Name: pleckstrin homology domain containing, family M (with RUN domain) member 1; targeted mutation 1.2, Haibo Zhao
• MGI ID: MGI:5888869
• Synonyms: Plekhm1^-
• Gene: Plekhm1 Location: Chr11:103255101-103303513 bp, - strand Genetic Position: Chr11, 67.09 cM
• Alliance: Plekhm1^tm1.2Hzhao page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:236517
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6J)F1

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The targeting vector was designed to insert a loxP site upstream of exon 3 and an FRT-flanked neomycin resistance (neo) cassette, followed by a second loxP site, downstream of exon 3. Germline Flp- and Cre- mediated recombination removed the FRT-flanked neo cassette and exon 3 sequences. Quantitative real-time PCR analysis confirmed the absence of exon 3 genomic DNA in several soft tissues and tibial bone from homozygous mutant mice. (J:236517)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Plekhm1 Mutation: 205 strains or lines available

References

• Original: J:236517 Fujiwara T, et al., PLEKHM1/DEF8/RAB7 complex regulates lysosome positioning and bone homeostasis. JCI Insight. 2016 Oct 20;1(17):e86330
• All: 1 reference(s)