These Smo knock-out mice have an embryonic lethal phenotype and exhibit ventral cyclopia and holoprosencephaly.
Andrew P McMahon, University of Southern California
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Smo | smoothened, frizzled class receptor |
Mice that are heterozygous for the targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past 9.5 days post coitum. Homozygous mutant mice exhibit ventral cyclopia and holoprosencephaly. During development homozygous mice fail to undergo embryonic turning, closure of the ventral midgut and normal rightward looping of the heart. The embryonic heart remains a linear tube. This mutant mouse strain represents a model that may be useful in studies of tumors and neural tube defects due to disruption of the hedgehog pathways.
When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the skin (Stock No. 004782), this mutant mouse strain may be useful in studies of hedgehog signalling and cell proliferation in the dental epithelium.
When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the nervous system (Stock No. 003771), this mutant mouse strain may be useful in studies of hedgehog signalling and cerebellar foliation.
When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the midbrain/dorsal spinal cord (Stock No. 007807), this mutant mouse strain may be useful in studies of craniofacial development.
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt a 400 bp region in the first exon of the targeted allele. The construct was electroporated into 129X1/SvJ derived AV3 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J derived blastocysts. Chimeric male animals were bred to 129X1/SvJ mice. The chimeric male was bred to a female bearing a Gtrosa26 allele. The alleles were maintained together by the Donating Investigator as a TM/Tg combination for a number of generations by heterozygote X heterozygote crosses. Upon arrival at The Jackson Laboratory, the transgenic allele was eliminated.
Allele Name | targeted mutation 1, Andrew P McMahon |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Smo-; Smon; Smonull; Smorec |
Gene Symbol and Name | Smo, smoothened, frizzled class receptor |
Gene Synonym(s) | |
Strain of Origin | 129X1/SvJ |
Chromosome | 6 |
Molecular Note | An frt-flanked neomycin resistance cassette replaced a segment containing 44 bp upstream and 358 bp downstream of the translation initiation codon. |
Mutations Made By | Andrew McMahon, University of Southern California |
This strain originated on a 129 background, and is maintained on the same. Upon arrival at The Jackson Laboratory, the transgenic allele was eliminated. Expected coat color is: White Bellied Agouti
When using the Smo- mouse strain in a publication, please cite the originating article(s) and include JAX stock #004288 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or Wild-type for Smo<tm1Amc> |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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