Tmem127^tm1.1Pdah
Targeted Allele Detail

Summary

• Symbol: Tmem127^tm1.1Pdah
• Name: transmembrane protein 127; targeted mutation 1.1, Patricia Dahia
• MGI ID: MGI:5581337
• Synonyms: Tmem127^null
• Gene: Tmem127 Location: Chr2:127089868-127103028 bp, + strand Genetic Position: Chr2, 61.87 cM
• Alliance: Tmem127^tm1.1Pdah page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:209071
• Parent Cell Line: Bruce 4 (ES Cell)
• Strain of Origin: B6.Cg-Thy1^a

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: LoxP sites were inserted in introns 2 and 4, with an IRES-GFP cassette inserted after the stop codon in exon 4. Cre-mediated recombination removed exons 3 and 4. Western analysis of mouse embryonic fibroblasts showed an absent of protein expression. (J:209071)

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 Tmem127 Mutation: 16 strains or lines available

References

• Original: J:209071 Qin Y, et al., The tumor susceptibility gene TMEM127 is mutated in renal cell carcinomas and modulates endolysosomal function. Hum Mol Genet. 2014 May 1;23(9):2428-39
• All: 2 reference(s)