| Status | Available to order |
| EMMA ID | EM:11865 |
| International strain name | B6;129-Hellstm1Uoe/H |
| Alternative name | LSHOFF (TV2) |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Unknown at present |
| Gene/Transgene symbol | Hells |
| Provider | Irina Stancheva |
| Provider affiliation | University of Edinburgh (past) |
| Genetic information | Promoterless stop cassette consisting of splice acceptor sequence, GFP-neomycin and polyadenylation sequence flanked with inverted FRT, F3, LoxP and Lox551 sites (Schnutgen et al., 2005, PNAS) was integrated into intron 3 of the Hells (Lsh) locus by homologous recombination in ES cells, with the aim of preventing transcription of the protein coding mRNA. Mice were generated by blastocyst injection. This line originated from ES cell clone 5 (E). HELLS (LSH) protein is not detectable by Western blots of homozygous mouse embryos (E12.5), homozygous ES cells and MEFs. Crossing these mice with strains expressing either cre or FLPo recombinase leads to inversion of the stop cassette into an inactive antisense orientation resulting in LshON animals which when homozygous for the inverted cassette are undistinguishable from their wild-type littermates. Subsequent crossing with strains expressing either cre or FLPo will restore the knock-out in either ubiquitous or tissue-specific manner. The successful stop cassette inversion in vivo by both cre and FLPo has been tested and confirmed. |
| Phenotypic information | Homozygous:Mice homozygous for the stop cassette insertion, both males and females, have hypomethylated genome, display reduced weight, low IgG levels in peripheral blood, hypomyelination of the central nervous system, lack mature germ cells and are unfertile. All homozygous mice develop ataxia and tremors around P30 and start losing weight at P45-P50, reaching 10% loss around P90-P95.Heterozygous:Heterozygous mice are phenotypically normal and undistinguishable from wild-type littermates. |
| Breeding history | Heterozygous animals were intercrossed with either heterozygous or wild-type animals from the same line. Direct brother-sister intercrossings were avoided, however all animals were fairly closely related. The submitted mice will be 13 generations from the original chimeric founder animal. |
| References | None available |
| Homozygous fertile | no |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Orphanet associated rare diseases, based on orthologous gene matching
