Del(6Ephb6-Trpv6)1Mfre
Targeted Allele Detail

Summary

• Symbol: Del(6Ephb6-Trpv6)1Mfre
• Name: deletion, Chr 6, Marc Freichel 1
• MGI ID: MGI:5430763
• Synonyms: Del1Mfre, Ephb6/Trpv6^tm1.2Mfre
• Gene: Del(6Ephb6-Trpv6)1Mfre Location: unknown Genetic Position: Chr6, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:185996
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intergenic deletion, Intragenic deletion
• Del(6Ephb6-Trpv6)1Mfre involves 2 genes/genome features (Ephb6, Trpv6) View all
• Mutation details: In the Trpv6 gene a loxP site was inserted upstream of a modified exon 13 in which nucleotide substitutions (GAT to GCC) result in the amino acid substitution of alanine for aspartic acid at position 581 (p.D581A). An FRT site flanked neomycin resistance gene cassette with a 3' loxP site was inserted downstream of the last exon (15) into intron 16 of the Ephb6 gene on the opposite strand. Subsequent cre-mediated recombination removed the neo cassette, exons 13-15 of Trpv6, as well as exons 17 and 18 of Ephb6. Immunohistochemistry confirmed the absence of Trpv6 protein expression in the epididymis. (J:185996)

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 Del(6Ephb6-Trpv6)1Mfre Mutation: 0 strains or lines available

References

• Original: J:185996 Weissgerber P, et al., Male fertility depends on Ca(2)+ absorption by TRPV6 in epididymal epithelia. Sci Signal. 2011;4(171):ra27
• All: 1 reference(s)