Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Hephtm1.2Jdun
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:	Hephtm1.2Jdun page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	10 strains or lines available

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)