Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Tmem127tm1.1Pdah
Name:	transmembrane protein 127; targeted mutation 1.1, Patricia Dahia
MGI ID:	MGI:5581337
Synonyms:	Tmem127null
Gene:	Tmem127  Location: Chr2:127089868-127103028 bp, + strand  Genetic Position: Chr2, 61.87 cM
Alliance:	Tmem127tm1.1Pdah page

Germline Transmission:	Earliest citation of germline transmission: J:209071
Parent Cell Line:	Bruce 4 (ES Cell)
Strain of Origin:	B6.Cg-Thy1a

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)

View phenotypes and curated references for all genotypes (concatenated display).

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:	15 strains or lines available

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)