Tap1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Tap1^m1Btlr
• Name: transporter 1, ATP-binding cassette, sub-family B (MDR/TAP); mutation 1, Bruce Beutler
• MGI ID: MGI:6113562
• Synonyms: joplin
• Gene: Tap1 Location: Chr17:34406530-34416199 bp, + strand Genetic Position: Chr17, 17.98 cM
• Alliance: Tap1^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced T to A transversion at base pair 34,193,258 (v38) on chromosome 17, or base pair 5,703 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,760 in the mRNA sequence NM_013683 (variant 1) within exon 7 of 11 total exons or residue 1,676 in the mRNA sequence NM_001161730 (variant 2) within exon 8 of 12 total exons. The mutated nucleotide is indicated in red. The mutation results in a valine (V) to glutamic acid (E) substitution at position 479 (V479E) in isoform 1 and a V to E substitution at position 451 (V451E) in isoform 2 of the protein. (J:254888)
• Inheritance: Recessive

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 Tap1 Mutation: 55 strains or lines available

References

• Original: J:254888 Zhong X, et al., Mutagenetix entry for joplin. MGI Direct Data Submission. 2018
• All: 1 reference(s)