In this strain a neomycin (neo) resistance cassette replaces exon 3 of the McKusick-Kaufman syndrome protein (Mkks or Bbs6) gene, abolishing gene function. These mice may be useful for studying the pathophysiology of McKusick-Kaufman syndrome and Bardet-Biedl syndrome.
Val Sheffield, University of Iowa, HHMI
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Mkks | McKusick-Kaufman syndrome |
In this strain a neomycin (neo) resistance cassette replaces exon 3 of the McKusick-Kaufman syndrome protein (Mkks or Bbs6) gene, abolishing gene function. Homozygous females are viable and fertile, while homozygous males are infertile due to lack of flagellated sperm. These mice are also smaller at birth than littermates. Mutations in Mkks have been known to cause McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). MKS is a disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, while BBS is a pleiotropic disorder characterized by retinal and photoreceptor degeneration, obesity, polydactyly, renal abnormalities, hypogenitalism and cognitive impairment. Mkks-/- mice lack MKKS expression in brain, lung, heart, kidney, eye, liver, spleen, testes, and muscle. They develop age-related blindness due to retinal degeneration, are obese, and have elevated blood pressure. These mice may be useful for studying the pathophysiology of MKS and BBS.
A targeting vector was designed to replace exon 3 of the McKusick-Kaufman syndrome protein (Mkks) gene with a neomycin resistance cassette. The construct was electroporated into (129X1/SvJ x 129S1/Sv)F1-Kitl+-derived R1embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts and resulting chimeric mice were bred to C57BL/6J mice. The donating investigator reported that these mice were then backcrossed at least six generations to a C57BL/6 background (see SNP note below). Upon arrival at The Jackson Laboratory, transgenic mice were bred to C57BL/6J inbred mice (Stock No. 000664) to establish the colony.
A 32 SNP (single nucleotide polymorphism) panel analysis, with 27 markers covering all 19 chromosomes and the X chromosome, as well as 5 markers that distinguish between the C57BL/6J and C57BL/6N substrains, was performed on the rederived living colony at The Jackson Laboratory Repository. At least 1 marker, on Chromosome 9, is segregating, suggesting an incomplete backcross.
Allele Name | targeted mutation 1, Val C Sheffield |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | Bbs6-; Mkks- |
Gene Symbol and Name | Mkks, McKusick-Kaufman syndrome |
Gene Synonym(s) | |
Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl+ |
Chromosome | 2 |
Molecular Note | A targeting construct was designed to replace exon 3 with a neo. Northern blot of mutants confirmed absence of mRNA in kidneys. |
Mutations Made By | Val Sheffield, University of Iowa, HHMI |
When maintaining a live colony, heterozygous mice may be bred together. Homozygous males are infertile due to obesity and lack of flagellated sperm. These mice are also smaller at birth than littermates.
When using the B6.129-Mkkstm1Vcs/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #014607 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or wildtype for Mkks<tm1Vcs> |
Frozen Mouse Embryo | B6.129-Mkks<tm1Vcs>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Mkks<tm1Vcs>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Mkks<tm1Vcs>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129-Mkks<tm1Vcs>/J Frozen Embryo | $3373.50 |
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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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