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| These OVE1799B-CA7B mice harbor a transposition-induced deletion of 273 kbp in mouse chromosome 18, including most of the coding sequences (exons 1-8) of Skor2 gene. These mice may be useful for studying cleft palate and cerebellar development. | |||||||||||||||
- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
Description
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Strain Information
Type Transposon Induced Mutation; Type Coisogenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N?pN1
Generation DefinitionsDonating Investigator Paul A Overbeek, Baylor College of Medicine Description
These OVE1799B-CA7B mice harbor a transposition-induced deletion of 273 kbp in mouse chromosome 18, including most of the coding sequence (exons 1-8) of the Ski/Sno family transcriptional co-repressor 2 (Skor2) gene. The deletion spans a non-coding region upstream of the Skor2 start codon to Skor2 intron 8 [NCB137/mm9; 76,860,053-77,133,014]. Homozygous mice have complete absence of Skor2 transcript, with no expression from the Gal4-VP16-SV40 cassette. Homozygous mice have defects in cerebellar development (defective Purkinje cell development, severe reduction of granule cell proliferation, and malformation of the cerebellum). In addition, the donating investigator reports that most (~90%) homozygous mice exhibit complete clefting of the secondary palate. These homozygous mice die within 24-48 hours of birth resulting from failure to nurse, defective neuromuscular junction formation, and/or respiration failure. Less than 5% of homozygous mice exhibit patent palate. Homozygotes that survive are smaller than their siblings and show an unstable gait/ataxia throughout their life span.Development
A Sleeping Beauty (SB) transposon transgenic approach was used to generate these mice. The pT2-Tyro-Gal4-SV40 transposon vector used here has an inverted repeat/direct repeat sequence (IR/DR; the SB transposon recognition site [280 bp]), a Gal4-VP16-SV40pA sequence (1.7 kbp), the Tyro minigene (4.1 kbp), and right IR/DR (280 bp). The IR/DR sequences are outward-facing (pointed away from the Gal4-VP16-SV40pA::Tyro sequences). The Gal4-VP16-SV40 cassette is in the opposite orientation to the Tyro minigene. The 4.1 kb tyrosinase minigene (Tyro) was isolated from plasmid Ty811C and contains the tyrosinase upstream regulatory sequences (2.25 kb from the BALB/c tyrosinase promoter and the first 65 bp of exon 1) and a chimeric cDNA made with (from 5' to 3') the upstream part of the C57BL/6-derived Tyrs-J (cysteine at amino acid 103) sequence ligated at a central ScaI site to the downstream part of the DBA/2-derived tyrosinase (valine at amino acid 346). This transgene was microinjected into one-cell stage FVB/N embryos. Expression of the tyrosinase minigene results in melanin synthesis, and two founder mice (F0) were identified by inspection for pigmentation. F0 mice were assigned an OVE number and then bred with FVB/N mice. Pigmented offspring (F1) with different coat colors were designated as subline 1799A and 1799B. F1 mice were bred with FVB/N mice. F2 mice with identical coat colors were then inbred to generate homozygotes. Homozygous mice were viable and fertile. Homozygous mice were bred to mice with widespread expression of the SB transposase (CAGGS-SB10 transgenic mice on an FVB/N genetic background). The resulting double transgenic male offspring ("seed males") have the ability to mobilize transposons in their germline; and mobilization of the outward-facing, IR/DR site-flanked transposon results in transposon integration at new sites in the genome (as well as genomic rearrangements including deletions, inversions and translocations). Seed males were bred with FVB/N females, and offspring were screened for new coat colors (i.e.; new integration sites of the transposon). Mice with new transpositions (new F0 mice) were bred to FVB/N mice to establish new lines (CA1, CA2, etc.). F1 mice for each new line were inbred and assessed for the presence/absence of viable homozygotes. Hemizygous (and homozygous) mice of line OVE1799B-CA7B exhibit light grey mottle/medium brown coat color. The donating investigator reports the CAGGS-SB10 transgene was bred out of the line. Inverse PCR analysis identified that the transposition created a deletion of 273 kbp in mouse chromosome 18, including most of the coding sequences (exons 1-8) of the Ski/Sno family transcriptional co-repressor 2 (Skor2) gene. The original integration site is a non-coding region 237 kbp upstream from the start codon of Skor2 [NCB137/mm9; 76,860,053]. The transposed integration site is intron 8 of Skor2 [NCB137/mm9; 77,133,014]. Transgenic males were sent to The Jackson Laboratory Repository Facebase collection. Upon arrival, mice were bred to FVB/NJ inbred mice (Stock No. 001800) for at least one generation to establish the colony.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 001800 FVB/NJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Facebase: models
View Facebase: models (58 strains)
Additional Web Information
Use of MICE by companies or for-profit entities requires a license prior to shipping.
Phenotype
Phenotype Information
assigned by genotype
Skor2Tn(sb-Tyr)1799B.CA7BOve/Skor2Tn(sb-Tyr)1799B.CA7BOve
involves: FVB/N
- mortality/aging
- partial prenatal lethality
- most mice die between 24 and 48 hours of birth due to failure to nurse, defective neuromuscular junction function, and/or respiratory failure (MGI Ref ID J:178891)
- nervous system phenotype
- abnormal cerebellar granule cell proliferation
- reduced proliferation (MGI Ref ID J:178891)
- abnormal cerebellum morphology (MGI Ref ID J:178891)
- behavior/neurological phenotype
- abnormal food intake
- neonates fail to nurse (MGI Ref ID J:178891)
- abnormal gait
- unstable gait or ataxia in surviving mice (MGI Ref ID J:178891)
- ataxia
- unstable gait or ataxia in surviving mice (MGI Ref ID J:178891)
- cellular phenotype
- abnormal Purkinje cell differentiation (MGI Ref ID J:178891)
- abnormal cerebellar granule cell proliferation
- reduced proliferation (MGI Ref ID J:178891)
- craniofacial phenotype
- cleft secondary palate
- in most mice (MGI Ref ID J:178891)
- growth/size phenotype
- decreased body size
- in surviving mice (MGI Ref ID J:178891)
- respiratory system phenotype
- respiratory failure (MGI Ref ID J:178891)
- digestive/alimentary phenotype
- cleft secondary palate
- in most mice (MGI Ref ID J:178891)
This mouse can be used to support research in many areas including:
Developmental Biology Research
Perinatal Lethality
Homozygous
Neurobiology Research
Cerebellar Defects
Purkinje cell defect
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Skor2Tn(sb-Tyr)1799B.CA7BOve | ||
|---|---|---|---|
| Allele Name | transposon insertion 1799B.CA7B, Paul A Overbeek | ||
| Allele Type | Transposon induced | ||
| Common Name(s) | OVE1799B-CA7B; | ||
| Mutation Made By | Paul Overbeek, Baylor College of Medicine | ||
| Strain of Origin | FVB/N | ||
| Gene Symbol and Name | Skor2, SKI family transcriptional corepressor 2 | ||
| Chromosome | 18 | ||
| Gene Common Name(s) | CORL2; EG664805; FUSSEL18; Fussel18; Gm7348; functional Smad suppressor element on chromosome 18; predicted gene 7348; predicted gene, EG664805; | ||
| Molecular Note | Mobilization of TgTn(sb-Tyr)1799BOve with Sleeping Beauty transposase from Tg(CAG-sb10)1Dla results in the integrationof the transposon in a non-coding region 237 kbp upstream from the start codon of Skor2 [NCB137/mm9; 76,860,053] through intron 8 of Skor2 [NCB137/mm9; 77,133,014] deleting exons 1 through 8. Real-time RT-PCR confirmed the absence of transcript expression in the P0 cerebellum. [MGI Ref ID J:178818] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Skor2Tn(sb-Tyr)1799B.CA7BOve, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Wang B; Harrison W; Overbeek PA; Zheng H. 2011. Transposon mutagenesis with coat color genotyping identifies an essential role for Skor2 in sonic hedgehog signaling and cerebellum development. Development 138(20):4487-97. [PubMed: 21937600] [MGI Ref ID J:178818]
Additional References
Skor2Tn(sb-Tyr)1799B.CA7BOve relatedOverbeek PA. 2012. Direct Data Submission 2011/12/27 MGI Direct Data Submission :. [MGI Ref ID J:178891]
Health & husbandry
The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.Colony Maintenance
Breeding & Husbandry Most homozygous mice die in the first 24-48 hours after birth with complications from cleft palate. When maintaining a live colony, heterozygous mice may be bred to wildtype siblings or to FVB/NJ inbred mice (Stock No. 001800).
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $1980.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2574.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Supply Notes
- Cryorecovery - Standard.
Progeny testing is not required.
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 11 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| 001800 FVB/NJ | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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.Ordering Information
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