- preweaning lethality, complete penetrance / IMPC
- dilated heart left ventricle / IMPC
- decreased heart rate / IMPC
- decreased circulating cholesterol level / IMPC
- decreased monocyte cell number / IMPC
- decreased circulating triglyceride level / IMPC
- increased cardiac stroke volume / IMPC
- abnormal gait / IMPC
- decreased circulating LDL cholesterol level / IMPC
- increased CD8-positive, alpha-beta T cell number / IMPC
B6;129-Hellstm1Uoe/H
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 |
Information from provider
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 |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- ICF syndrome / Orphanet_2268
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- osteoporosis / MGI
- abnormal long bone epiphysis morphology / MGI
- kyphosis / MGI
- hypoglycemia / MGI
- decreased cell proliferation / MGI
- alopecia / MGI
- abnormal tibia morphology / MGI
- small spleen / MGI
- small thymus / MGI
- atelectasis / MGI
- hyperkeratosis / MGI
- decreased body weight / MGI
- abnormal gait / MGI
- thymus hypoplasia / MGI
- respiratory failure / MGI
- abnormal coat/hair pigmentation / MGI
- abnormal axial skeleton morphology / MGI
- abnormal kidney morphology / MGI
- abnormal renal tubule morphology / MGI
- dilated renal tubules / MGI
- short tibia / MGI
- small kidney / MGI
- abnormal thoracic vertebrae morphology / MGI
- short femur / MGI
- paternal imprinting / MGI
- decreased cellular sensitivity to gamma-irradiation / MGI
- delayed endochondral bone ossification / MGI
- abnormal chromosome morphology / MGI
- abnormal long bone morphology / MGI
- premature aging / MGI
- abnormal chromosome number / MGI
- increased renal tubule apoptosis / MGI
- renal tubular necrosis / MGI
- abnormal proximal convoluted tubule morphology / MGI
- decreased B cell number / MGI
- increased double-negative T cell number / MGI
- cachexia / MGI
- increased CD8-positive, alpha-beta T cell number / MGI
- decreased subcutaneous adipose tissue amount / MGI
- decreased embryo weight / MGI
- decreased fetal weight / MGI
- decreased birth weight / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
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