Heph^tm1.2Jdun
Targeted Allele Detail

Summary

• Symbol: Heph^tm1.2Jdun
• Name: hephaestin; targeted mutation 1.2, Joshua L Dunaief
• MGI ID: MGI:5490638
• Gene: Heph Location: ChrX:95499042-95618091 bp, + strand Genetic Position: ChrX, 42.69 cM
• Alliance: Heph^tm1.2Jdun page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:196540
• Parent Cell Line: iTL IC1 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 4 was floxed. Cre-mediated recombination removed exon 4 and the FRT-flanked neomycin resistance cassette inserted upstream of exon 4. Western blot analysis confirmed the absence of protein expression in neural retina. (J:196540)

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Heph Mutation: 11 strains or lines available

References

• Original: J:196540 Wolkow N, et al., Ferroxidase hephaestin's cell-autonomous role in the retinal pigment epithelium. Am J Pathol. 2012 Apr;180(4):1614-24
• All: 8 reference(s)