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| This Snai2del1 mutant mouse strain may be useful in studies of Waardenburg Syndrome, Type IID, pigmentation, gonadal development and hematopoiesis. | |||||||||||||||
- 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 Mutant Stock; Mutant Strain; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation ?pN1
Generation DefinitionsDonating Investigator Tom Gridley, Maine Medical Center Research Institute Description
Mice that are homozygous for the targeted mutation are viable, subfertile, and are smaller in size than wildtype controls. Homozygotes have diluted coat color and areas of depigmentation, sometimes exhibiting white forehead blaze and spots on tails and feet. From birth to weaning age (approximately 3 weeks), homozygotes exhibit slowed growth rate and by 3 weeks of age weigh approximately 70% of wildtype control. After weaning, mutant growth rates are similar to wildtype, but mutants remain small in size. Homozygous adults develop eye infections (suppurative conjunctivitis and blepharitis). Homozygous males have reduced testes size due to reduced seminiferous tubules and are slightly subfertile, producing smaller litters sizes. Approximately 15% of homozygous males are infertile. Spermatogenesis is normal, however, in fertile homozygotes. Homozygotes exhibit macrocytic anemia, decreased hematocrit and leukocyte numbers. T cell differentiation is impaired and thymus size is diminished. Some mutant mice display hyperactivity and circling behavior.Development
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes was used to disrupt the entire protein coding region of the gene. The construct was electroporated into 129S1/Sv-Oca2+ Tyr+ Kitl+ derived CJ7 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric animals were crossed to C57BL/6J mice. The mice were backcrossed to C57BL/6J once to establish the colony.
Control Information
| Control | ||
|---|---|---|
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Facebase: models
View Facebase: models (58 strains)
010617 B6.129S1-Snai2tm1Grid/J
Phenotype
Phenotype Information
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Waardenburg Syndrome, Type 2D; WS2D
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Piebald Trait; PBT (SNAI2)
assigned by genotype
Snai2tm2Grid/Snai2tm2Grid
involves: 129S1/Sv * C57BL/6
- mortality/aging
- complete neonatal lethality
- homozygotes with cleft palate die shortly after birth (MGI Ref ID J:121243)
- craniofacial phenotype
- cleft secondary palate
- ~50% of homozygotes display cleft secondary palate (MGI Ref ID J:121243)
- persistence of medial edge epithelium during palatal shelf fusion
- at E15.0 palatal shelves elevate normally and come together at midline, but fail to form medial epithelial seam and fuse (MGI Ref ID J:121243)
- digestive/alimentary phenotype
- cleft secondary palate
- ~50% of homozygotes display cleft secondary palate (MGI Ref ID J:121243)
- persistence of medial edge epithelium during palatal shelf fusion
- at E15.0 palatal shelves elevate normally and come together at midline, but fail to form medial epithelial seam and fuse (MGI Ref ID J:121243)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Snai2tm2Grid/Snai2tm2Grid
involves: 129S1/Sv
- pigmentation phenotype
- abnormal skin pigmentation
- various degrees of dermal depigmentation; tails and feet are often depigmented (MGI Ref ID J:78323)
- diluted coat color (MGI Ref ID J:78323)
- head blaze
- white forehead blaze occasionally noted (MGI Ref ID J:78323)
- variable body spotting
- behavior/neurological phenotype
- circling (MGI Ref ID J:80529)
- genetic background effects were noted, but not specified (MGI Ref ID J:78323)
- hyperactivity (MGI Ref ID J:80529)
- genetic background effects were noted, but not specified (MGI Ref ID J:78323)
- endocrine/exocrine gland phenotype
- small seminiferous tubules
- despite the reduced size of the tubules, spermatogenesis appeared normal (MGI Ref ID J:78323)
- small testis
- testes were reduced by 40% compared to controls (MGI Ref ID J:78323)
- growth/size phenotype
- decreased body size
- at time of weaning animals weighed 70% that of wild-type and heterozygous littermates (MGI Ref ID J:48521)
- postnatal growth retardation
- hematopoietic system phenotype
- abnormal T cell differentiation
- a partial block in T cell differentiation in the thymus resulted in fewer mature CD4+/CD8+ cells (MGI Ref ID J:78323)
- decreased hematocrit (MGI Ref ID J:78323)
- decreased hemoglobin content (MGI Ref ID J:78323)
- decreased leukocyte cell number (MGI Ref ID J:78323)
- decreased platelet cell number (MGI Ref ID J:78323)
- increased mean corpuscular volume (MGI Ref ID J:78323)
- macrocytic anemia (MGI Ref ID J:78323)
- small thymus
- apoptotic cells were noted in the cortical level (MGI Ref ID J:78323)
- immune system phenotype
- abnormal T cell differentiation
- a partial block in T cell differentiation in the thymus resulted in fewer mature CD4+/CD8+ cells (MGI Ref ID J:78323)
- blepharitis
- variable degrees of inflammation; almost all homozygotes develop swollen eyelids (MGI Ref ID J:48521)
- conjunctivitis
- variable degrees of neutrophilic infiltration (MGI Ref ID J:48521)
- decreased leukocyte cell number (MGI Ref ID J:78323)
- small thymus
- apoptotic cells were noted in the cortical level (MGI Ref ID J:78323)
- reproductive system phenotype
- decreased litter size
- small litters from homozygous males were produced; on average the litter size was 3-6 pups vs. 10-12 in controls (MGI Ref ID J:78323)
- male infertility
- incomplete penetrance; 15% of males fail to induce pregnancy despite producing plugs in females (MGI Ref ID J:78323)
- reduced male fertility
- small litters from homozygous males were produced; on average the litter size was 3-6 pups vs. 10-12 in controls (MGI Ref ID J:78323)
- small seminiferous tubules
- despite the reduced size of the tubules, spermatogenesis appeared normal (MGI Ref ID J:78323)
- small testis
- testes were reduced by 40% compared to controls (MGI Ref ID J:78323)
- vision/eye phenotype
- abnormal conjunctiva morphology
- histological analysis revealed a number of conjunctival abnormalities (MGI Ref ID J:48521)
- conjunctivitis
- variable degrees of neutrophilic infiltration (MGI Ref ID J:48521)
- blepharitis
- variable degrees of inflammation; almost all homozygotes develop swollen eyelids (MGI Ref ID J:48521)
- integument phenotype
- abnormal skin pigmentation
- various degrees of dermal depigmentation; tails and feet are often depigmented (MGI Ref ID J:78323)
- diluted coat color (MGI Ref ID J:78323)
- head blaze
- white forehead blaze occasionally noted (MGI Ref ID J:78323)
- variable body spotting
- cellular phenotype
- abnormal T cell differentiation
- a partial block in T cell differentiation in the thymus resulted in fewer mature CD4+/CD8+ cells (MGI Ref ID J:78323)
This mouse can be used to support research in many areas including:
Developmental Biology Research
Internal/Organ Defects
gonads
hematopoietic defects
Hematological Research
Hematopoietic Defects
Internal/Organ Research
Thymus Defects
Reproductive Biology Research
Developmental Defects Affecting Gonads
males only
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Snai2tm2Grid | ||
|---|---|---|---|
| Allele Name | targeted mutation 2, Tom Gridley | ||
| Allele Type | Targeted (knock-out) | ||
| Common Name(s) | Slug-; Slughdelta1; Snai2del1; | ||
| Mutation Made By | Tom Gridley, Maine Medical Center Research Institute | ||
| Strain of Origin | 129S1/Sv-Oca2<+> Tyr<+> Kitl<+> | ||
| Gene Symbol and Name | Snai2, snail homolog 2 (Drosophila) | ||
| Chromosome | 16 | ||
| Gene Common Name(s) | SLUG; SLUGH1; SNAIL2; Slugh; WS2D; slug, chicken homolog; | ||
| Molecular Note | The gene was inactivated by replacement of the entire protein coding region with a PGK-neo cassette via homologous recombination. [MGI Ref ID J:48521] | ||
Genotyping
Genotyping Information
Genotyping Protocols
Snai2tm2Grid,Separated MCA
Snai2tm2Grid, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References provided by MGI
Selected Reference(s)
Jiang R; Lan Y; Norton CR; Sundberg JP; Gridley T. 1998. The Slug gene is not essential for mesoderm or neural crest development in mice. Dev Biol 198(2):277-85. [PubMed: 9659933] [MGI Ref ID J:48521]
Additional References
Snai2tm2Grid relatedMurray SA; Gridley T. 2006. Snail family genes are required for left-right asymmetry determination, but not neural crest formation, in mice. Proc Natl Acad Sci U S A 103(27):10300-4. [PubMed: 16801545] [MGI Ref ID J:111702]
Murray SA; Oram KF; Gridley T. 2007. Multiple functions of Snail family genes during palate development in mice. Development 134(9):1789-97. [PubMed: 17376812] [MGI Ref ID J:121243]
Oram KF; Gridley T. 2005. Mutations in Snail Family Genes Enhance Craniosynostosis of Twist1 Haplo-insufficient Mice: Implications for Saethre-Chotzen Syndrome. Genetics 170(2):971-4. [PubMed: 15802514] [MGI Ref ID J:99331]
Perez-Caro M; Bermejo-Rodriguez C; Gonzalez-Herrero I; Sanchez-Beato M; Piris MA; Sanchez-Garcia I. 2008. Transcriptomal profiling of the cellular response to DNA damage mediated by Slug (Snai2). Br J Cancer 98(2):480-8. [PubMed: 18182996] [MGI Ref ID J:134194]
Perez-Losada J; Sanchez-Martin M; Rodriguez-Garcia A; Sanchez ML; Orfao A; Flores T; Sanchez-Garcia I. 2002. Zinc-finger transcription factor Slug contributes to the function of the stem cell factor c-kit signaling pathway. Blood 100(4):1274-86. [PubMed: 12149208] [MGI Ref ID J:78323]
Perez-Mancera PA; Bermejo-Rodriguez C; Gonzalez-Herrero I; Herranz M; Flores T; Jimenez R; Sanchez-Garcia I. 2007. Adipose tissue mass is modulated by SLUG (SNAI2). Hum Mol Genet 16(23):2972-86. [PubMed: 17905753] [MGI Ref ID J:130039]
Perez-Mancera PA; Gonzalez-Herrero I; Maclean K; Turner AM; Yip MY; Sanchez-Martin M; Garcia JL; Robledo C; Flores T; Gutierrez-Adan A; Pintado B; Sanchez-Garcia I. 2006. SLUG (SNAI2) overexpression in embryonic development. Cytogenet Genome Res 114(1):24-9. [PubMed: 16717446] [MGI Ref ID J:109188]
Perez-Mancera PA; Gonzalez-Herrero I; Perez-Caro M; Gutierrez-Cianca N; Flores T; Gutierrez-Adan A; Pintado B; Sanchez-Martin M; Sanchez-Garcia I. 2005. SLUG in cancer development. Oncogene 24(19):3073-82. [PubMed: 15735690] [MGI Ref ID J:98295]
Sanchez-Martin M; Rodriguez-Garcia A; Perez-Losada J; Sagrera A; Read AP; Sanchez-Garcia I. 2002. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet 11(25):3231-6. [PubMed: 12444107] [MGI Ref ID J:80529]
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 When maintaining a live colony, these mice can be bred as heterozygotes. Homozygotes are subfertile.
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 | ||
| 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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