Rab39b^tm1Pdad
Targeted Allele Detail

Summary

• Symbol: Rab39b^tm1Pdad
• Name: RAB39B, member RAS oncogene family; targeted mutation 1, Patrizia D'Adamo
• MGI ID: MGI:7547217
• Synonyms: Rab39b KD
• Gene: Rab39b Location: ChrX:74615652-74621837 bp, - strand Genetic Position: ChrX, 38.26 cM
• Alliance: Rab39b^tm1Pdad page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:341888
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutation: Insertion
• Mutation details: During the development of a floxed allele, an ES clone containing a single loxP site in the 3 UTR and an FRT-flanked PGK-neomycin cassette immediately downstream of this loxP site was discovered. This is a hypomorphic allele. (J:341888)

Disease models

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 Rab39b Mutation: 10 strains or lines available

References

• Original: J:341888 Mignogna ML, et al., Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model. Hum Mol Genet. 2022 May 4;31(9):1389-1406
• All: 1 reference(s)