Strain Name:

C3H/HeSnJ-Sox18Ra-J/J

Stock Number:

002261

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Availability:

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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 Coisogenic; Mutant Strain; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse

Description
The Sox18Ra and Sox18Ra-J alleles cause a less severe phenotype than the Sox18Ra-Op allele. The Sox18Ra and Sox18Ra-J alleles are similar mutations and give a very similar phenotype. The Sox18Ra allele has been more broadly described in the literature and will be covered here. Heterozygotes are viable and fertile. Heterozygotes have developmentally retarded sinus hair growth apparent at embryonic day 16.5 and retarded development of pelage follicles apparent by embryonic day 17.5. Thus, heterozygotes have slightly shorter vibrissae evident at birth, and can be distinguished at three days of age by their pink skin which, due to the abnormally sparse development of the coat, fails to darken like that of wildtype siblings. A paucity of fur is apparent by nine days of age and persists throughout life. Compared with the wild type pelage, Sox18Ra/+ coats have longer guard hairs, shorter awls and zigzags, an increased number of guard hairs and awls, fewer zigzags, and no auchenes. There are mild morphological abnormalities in the hairs. There is no decrease in the number of hair follicles, but many of the follicles fail to grow hair. There is decreased yellow pigment in the hair causing the thin coat that develops to be darker than normal particularly in the dorsal midline. Subsequent to the first wave, hair growth is asynchronous and the normal cyclic fluctuations in skin thickness are not found. The adipose layer of the skin is thinner than normal. Despite this asynchrony of adjacent hair follicles, hair cycles do occur across the pelage, but are more diffuse than normal. The hair follicles have an aberrant shape and orientation. This aberrancy is more pronounced in homozygotes. The impact of the Sox18Ra mutation on hair is more pronounced in the anterior regions than in the posterior regions. Approximately one in ten heterozygous pups displays chylous ascites, and the most severely affected do not survive. This trait is seen in males more than in females and is modified by genetic background. (Carter and Phillips, 1954; Slee, 1956 and 1957; Mann, 1963; Herbertson and Wallace, 1964; Wallace, 1979.)

Homozygotes are nearly bald, lack vibrissae, and usually die before weaning. They have generalized edema and weigh more at birth than wildtype littermates. It has been estimated that 40% of homozygotes die as embryos. The homozygotes that survive are often 5-10% shorter in body length. There are fewer hair follicles than normal and the few hairs that do grow have abnormal morphology. There is pigment in the tail and ear pinnae, and theear pinnae are thinner than normal and are often wrinkled. (Carter and Phillips, 1954; Slee, 1956 and 1957; Mann 1963.)

Related Strains

Strains carrying other alleles of Sox18
000018   B6.Cg-Sox18Ra/J
010987   B6;129S-Sox18tm1(GFP/cre/ERT2)Pzg/J
000125   B6By.Cg-Sox18Ra Pt Os/J
000508   B6D2-Sox18Ra-Op/J
023020   B6N(Cg)-Sox18tm1.1(KOMP)Vlcg/J
000267   ROP/GnLeJ
View Strains carrying other alleles of Sox18     (6 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Hypotrichosis-Lymphedema-Telangiectasia Syndrome; HLTS   (SOX18)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Sox18Ra-J/Sox18+

        C3H/HeSnJ
  • pigmentation phenotype
  • darkened coat color
    • agouti pattern is modified, the entire coat being unusually dark   (MGI Ref ID J:30359)
  • integument phenotype
  • darkened coat color
    • agouti pattern is modified, the entire coat being unusually dark   (MGI Ref ID J:30359)
  • retarded hair growth
    • the first coat develops a little more slowly than normal   (MGI Ref ID J:30359)
  • short vibrissae
    • at birth and in juvenile mice vibrissae are often shorter than seen in littermate controls; there is no noteable difference in adult mice   (MGI Ref ID J:30359)
  • sparse hair
    • the first hair coat is thin, ragged in appearance   (MGI Ref ID J:30359)

Sox18Ra-J/Sox18Ra-J

        C3H/HeSnJ
  • mortality/aging
  • partial neonatal lethality
    • the majority of mice die shortly after birth   (MGI Ref ID J:30359)
  • growth/size/body phenotype
  • decreased body size
    • infrequent survivors are runted   (MGI Ref ID J:30359)
  • integument phenotype
  • abnormal vibrissa number
    • few if any vibrissae are seen   (MGI Ref ID J:30359)
  • hairless   (MGI Ref ID J:30359)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Sox18Ra-J related

Dermatology Research
Skin and Hair Texture Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Sox18Ra-J
Allele Name ragged Jackson
Allele Type Spontaneous
Common Name(s) RaJ;
Strain of OriginC3H/HeSnJ
Gene Symbol and Name Sox18, SRY (sex determining region Y)-box 18
Chromosome 2
Gene Common Name(s) AI385749; HLTS; Ra; Ragl; Sry-related HMG-box gene 18; expressed sequence AI385749; ragged; ragged-like;
Molecular Note A deletion of a guanine residue introduced a frameshift mutation affecting amino acids downstream of 313. Translation was prematurely stopped at codon 435. The deleted nucleotide was reported as nucleotide 959 in J:61488, 970 in J:74211, and nucleotide 937 in J:83731. [MGI Ref ID J:61488] [MGI Ref ID J:74211] [MGI Ref ID J:83731]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Dunn TL; Mynett-Johnson L; Wright EM; Hosking BM; Koopman PA; Muscat GE. 1995. Sequence and expression of Sox-18 encoding a new HMG-box transcription factor. Gene 161(2):223-5. [PubMed: 7665083]  [MGI Ref ID J:28369]

Hosking BM; Wyeth JR; Pennisi DJ; Wang SC; Koopman P; Muscat GE. 2001. Cloning and functional analysis of the Sry-related HMG box gene, Sox18. Gene 262(1-2):239-47. [PubMed: 11179689]  [MGI Ref ID J:67559]

James K; Hosking B; Gardner J; Muscat GE; Koopman P. 2003. Sox18 mutations in the ragged mouse alleles ragged-like and opossum. Genesis 36(1):1-6. [PubMed: 12748961]  [MGI Ref ID J:83731]

Pennisi D; Bowles J; Nagy A; Muscat G; Koopman P. 2000. Mice null for sox18 are viable and display a mild coat defect Mol Cell Biol 20(24):9331-6. [PubMed: 11094083]  [MGI Ref ID J:66010]

Pennisi D; Gardner J; Chambers D; Hosking B; Peters J; Muscat G; Abbott C; Koopman P. 2000. Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice. Nat Genet 24(4):434-7. [PubMed: 10742113]  [MGI Ref ID J:61488]

Wallace ME. 1979. Analysis of genetic control of chylous ascites in ragged mice. Heredity (Edinburgh) 43(1):9-18. [PubMed: 291594]  [MGI Ref ID J:6220]

Sox18Ra-J related

Donahue LR. 1999. The Jackson Laboratory Mouse Mutant Resource 1999 Mutation Reports MGI Direct Data Submission :.  [MGI Ref ID J:51014]

Downes M; Koopman P. 2001. SOX18 and the transcriptional regulation of blood vessel development. Trends Cardiovasc Med 11(8):318-24. [PubMed: 11728880]  [MGI Ref ID J:74211]

James K; Hosking B; Gardner J; Muscat GE; Koopman P. 2003. Sox18 mutations in the ragged mouse alleles ragged-like and opossum. Genesis 36(1):1-6. [PubMed: 12748961]  [MGI Ref ID J:83731]

Pennisi D; Gardner J; Chambers D; Hosking B; Peters J; Muscat G; Abbott C; Koopman P. 2000. Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice. Nat Genet 24(4):434-7. [PubMed: 10742113]  [MGI Ref ID J:61488]

Samples R. 1999. The Jackson Laboratory Mouse Mutant Resource 1999 Mutation Reports MGI Direct Data Submission :.  [MGI Ref ID J:51188]

Sundberg JP (ed.). 1994. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

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* $3300.00
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 10 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* $4290.00
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 10 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.

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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.
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