Strain Name:

FVB/N-Skor2Tn(sb-Tyr)1799B.CA7BOve/J

Stock Number:

017608

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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

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.
Specieslaboratory mouse
GenerationN?pN1
Generation Definitions
 
Donating 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

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View Facebase: models     (61 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      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)
    • abnormal Purkinje cell differentiation   (MGI Ref ID J:178891)
    • abnormal cerebellum development   (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
  • growth/size/body 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
View Research Applications

Research Applications
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 OriginFVB/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 related

Overbeek 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 & HusbandryMost 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 View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2085.00
Animals Provided

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 View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2710.50
Animals Provided

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).

View USA Canada and Mexico Pricing View International Pricing

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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