Slc30a8^tm1.1Vlcg
Targeted Allele Detail

Summary

• Symbol: Slc30a8^tm1.1Vlcg
• Name: solute carrier family 30 (zinc transporter), member 8; targeted mutation 1.1, Velocigene
• MGI ID: MGI:6197055
• Synonyms: Slc30a8 R138X
• Gene: Slc30a8 Location: Chr15:52158949-52199194 bp, + strand Genetic Position: Chr15, 19.88 cM
• Alliance: Slc30a8^tm1.1Vlcg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:264368
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence, Null/knockout)
• Mutations: Insertion, Intragenic deletion, Single point mutation
• Mutation details: Nucleotide 409 was changed from a C to T in exon 3 and a self-excising neo cassette was inserted in intron 3 deleting 23 bp of sequence via homologous recombination. The mutation in exon 3 changes an arginine into a stop codon. RNA in situ hybridization showed a 70% reduction in mRNA expression in pancreatic islets from homozygous mice. However, western blot analysis failed to detect any protein in this tissue in homozygous mice. This mutation is analogous to the human p.Arg138* variant. (J:264368)

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 Slc30a8 Mutation: 23 strains or lines available

References

• Original: J:264368 Kleiner S, et al., Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory capacity. Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):E7642-E7649
• All: 3 reference(s)