These mutant mice possess an engineered deletion spanning approximately 3 Mb on mouse Chromosome 11. The region involved encompasses a chromosomal segement that shares conserved synteny with the Smith-Magenis syndrome (SMS) critical interval on human Chromosome 17. Mice carrying one copy of the deletion prove to be viable while mice homozygous for the deletion are embryonic lethal. Heterozygous males suffer from reduced fertility, exhibiting reduced sperm counts and an increase in sperm structural abnormalities. Mutant mice weigh less than their wild type littermates at birth but rapidly gain weight such that by 4 months of age, they exceed wild type weight and eventually become obese (60 grams by 8 months of age). Mutant mice exhibit craniofacial abnormalities characterized by overall shorter skulls with broader, shorter snouts and nasal bones. Mutants also produce abnormal electroencephalograms (EEG) with tonic clonic-type seizures being observed in 22% of the mice tested. Behavioral...
James R. Lupski, Baylor College of Medicine
These mutant mice possess an engineered deletion spanning approximately 3 Mb on mouse Chromosome 11. The region involved encompasses a chromosomal segement that shares conserved synteny with the Smith-Magenis syndrome (SMS) critical interval on human Chromosome 17. Mice carrying one copy of the deletion prove to be viable while mice homozygous for the deletion are embryonic lethal. Heterozygous males suffer from reduced fertility, exhibiting reduced sperm counts and an increase in sperm structural abnormalities. Mutant mice weigh less than their wild type littermates at birth but rapidly gain weight such that by 4 months of age, they exceed wild type weight and eventually become obese (60 grams by 8 months of age). Mutant mice exhibit craniofacial abnormalities characterized by overall shorter skulls with broader, shorter snouts and nasal bones. Mutants also produce abnormal electroencephalograms (EEG) with tonic clonic-type seizures being observed in 22% of the mice tested. Behavioral studies involving heterozygous mice found that male mutants are hypoactive and display a shorter average circadian period than wildtype mice. This mutant mouse may be useful in studies exploring the consequences of deletions involving the SMS critical interval. (Mice bearing the reciprocal duplication are also available; see Stock: 005536)
Chromosome-engineering cassettes were inserted into mouse chromosome 11 of 129S7/SvEvBrd-derived AB2.2 embryonic stem (ES) cells, bracketing a span of approximately 3 Mb between the Cops (proximal point) and Zfp179 (distal point) loci. The cassette placed at the distal locus contained most of the Zfp179 gene (excluding exon 16), a tyrosinase minigene, a 5' portion of an hprt minigene, a loxP site and neomycin resistance gene. The cassette placed at the proximal locus contained Cops exons III to VI, a puromycin resistance gene, a loxP site, a 3' portion of an hprt minigene and a Krt1-14-agouti transgene. Double-targeted ES cells were subjected to transient cre recombinase expression with subsequent selection of recombinants by using HAT media. Correctly targeted ES cells were injected into C57BL/6-Tyrc-Brd blastocysts and the resulting chimeric mice were mated to C57BL/6-Tyrc-Brd mice for eight generations (4/2005) before being mated to C57BL/6J at The Jackson Laboratory.
|Allele Name||deletion, Chr 11, James R Lupski 1|
|Allele Synonym(s)||Del(11Csn3-Zfp179)1Jrl; Del1Jrl; df(11)17|
|Gene Symbol and Name||Del(11Cops3-Rnf112)1Jrl, deletion, Chr 11, James R Lupski 1|
|Gene Synonym(s)||Del(11Cops3-Zfp179)1Jrl; Del(11Cops3-Zfp179)1Jrl; Del(11Csn3-Zfp179)1Jrl; Del(11Csn3-Zfp179)1Jrl; Del1Jrl; Df(11)17|
|Strain of Origin||129S7/SvEvBrd-Hprt |
|Molecular Note||A deletion between Cops3 and Rnf112 was engineered in ES cells by targeted insertion of complementary partial Hprt-loxP constructs at each site. Cre recombinase actived deleted the intervening region and reconstructed the Hprt minigene for selection purposes.|
|Mutations Made By|| |
Katherina Walz, Baylor College of Medicine
When maintaining a live colony, these mice are bred as heterozygotes (mice carry only one copy of the deletion).
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
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