Mice that are heterozygous for the targeted mutation are viable, fertile, and normal in size. No gene product (mRNA or protein) is detected by RT-PCR or Western blot analysis of homozygous embryos, aged embryonic day 10. Homozygotes have an embryonic lethal phenotype, with defective vasculature formation in the embryo and yolk sac and widespread hemorrhaging at embryonic day 10.5. Heterozygotes exhibit iris coloboma, irregular/off center pupils and corneal opacity.
A targeting vector containing a neo cassette was used to delete 5kb of sequence at the 5' end of the gene, which encodes the C-terminal part of the DSL domain. The construct was electroporated into 129S1/Sv-Oca2+ Tyr+ Kitl+ derived CJ7 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The mice were backcrossed to C57BL/6J for 10 generations.
|Allele Name||targeted mutation 1, Tom Gridley|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Jag1dDSL; Jag1del1; Jag1null|
|Gene Symbol and Name||Jag1, jagged 1|
|Strain of Origin||129S1/Sv-Oca2+ Tyr+ Kitl+|
|Molecular Note||A 5kb genomic fragment at the 5' end of the gene was replaced by a neomycin resistance cassette. These deleted sequences include coding regions for the C-terminal portion of the DSL domain. RT-PCR analysis demonstrated that no transcript was detectable in RNA isolated from E10 homozygous embryos, and Western blot analysis on extracts of E10.5 homozygous embryos confirmed that the protein was not expressed.|
|Mutations Made By|| |
Thomas Gridley, Maine Medical Center Research Institute
When maintaining a live colony, these mice are bred as heterozygotes. Homozygotes are embryonic lethal due to hemorrhaging.
When using the B6.129S1-Jag1tm1Grid/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #010616 in your Materials and Methods section.