Description

Strain Information

Type Congenic; Mutant Strain; Additional information on Genetically Engineered Mutant Mice. Species laboratory mouse Background Strain C57BL/6J Donor Strain Mixed cross Generation N32p

Description
The Sox18^Ra and Sox18^Ra-J alleles cause a less severe phenotype than the Sox18^Ra-Op allele. The Sox18^Ra and Sox18^Ra-J alleles are similar mutations and give a very similar phenotype. The Sox18^Ra 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, Sox18^Ra/+ 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 Sox18^Ra 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   Sox18^Ra allele

000125	B6By.Cg-Sox18Ra Pt Os/J
000267	ROP/GnLeJ

View Strains carrying   Sox18^Ra     (2 strains)

Strains carrying other alleles of Sox18

000508	B6D2-Sox18Ra-Op/J
002261	C3H/HeSnJ-Sox18Ra-J/J

View Strains carrying other alleles of Sox18     (2 strains)

Additional Web Information

Congenic Nomenclature

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Sox18^Ra/Sox18⁺

        Background Not Specified

• pigmentation phenotype
• darkened coat color (MGI Ref ID J:86)
  • agouti pattern is modified, the entire coat being unusually dark
• skin/coat/nails phenotype
• abnormal hair follicle morphology (MGI Ref ID J:12991)
  • growth of the late differentiating hair follicles which produce auchenes and zigzags is very retarded or arrested
• abnormal zigzag hairs (MGI Ref ID J:86)
  • nearly absent
• absent auchene hairs (MGI Ref ID J:86)
  • absent
• darkened coat color (MGI Ref ID J:86)
  • agouti pattern is modified, the entire coat being unusually dark
• retarded hair growth (MGI Ref ID J:86)
  • the first coat develops a little more slowly than normal
• sparse hair (MGI Ref ID J:86)
  • absence of auchene and zigzag hairs results in a coat with a thin, ragged appearance

Sox18^Ra/Sox18^Ra

        Background Not Specified

• lethality-postnatal
• postnatal lethality (MGI Ref ID J:86)
  • almost all die before weaning, but rare survivors are able to breed
• skin/coat/nails phenotype
• alopecia (MGI Ref ID J:86)
  • animals are nearly hairless

View Research Applications

Research Applications

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

Sox18^Ra related

Dermatology Research
Skin and Hair Texture Defects

Genes & Alleles

Gene & Allele Information

Allele Symbol		Sox18Ra
Allele Name		ragged
Allele Type		Spontaneous
Common Name(s)		Ra;
Strain of Origin		Translocation stock
Gene Symbol and Name		Sox18, SRY-box containing gene 18
Chromosome		2
Gene Common Name(s)		AI385749; HLTS; Ra; Ragl; Sry-related HMG-box gene; expressed sequence AI385749; ragged; ragged-like;
General Note		Sox18ra, ragged, semidominant. Arose spontaneously in a crossbred stock. In heterozygotes the first coat develops a little more slowly than normal. The coat contains guard hairs and awls but no auchenes and very few zigzags. This gives the coat a thin ragged appearance. The agouti pattern is modified, the entire coat being unusually dark. Heterozygotes are normally viable and fertile. Homozygotes are almost completely naked. Many are edematous at birth, and almost all die before weaning. A fewsurvive and may breed (J:86). Developmental studies have shown that in Sox18ra/+ mice, growth of the late differentiating hair follicles which produce auchenes and zigzags is very retarded or arrested (J:12991). A low percentage of Sox18ra/+ mice in some stocks were found by Herbertson and Wallace (J:13089) to have a white chylous fluid in the abdomen from shortly after birth until a week or so of age. The incidence of chylous ascites in these mice is affected by one or more genes unlinked to Sox18Ra, and also by two mutant genes linked to Sox18Ra, (fi, we) and one on a different chromosome (py, Chr 1) (J:6220). The phenotypes of Sox18Ra and Sox18ra-J have been described as indistinguishable (J:51188).
Molecular Note		A deletion of a cytosine residue introduced a frameshift mutation affecting amino acids downstream of 314. Translation was prematurely stopped at codon 435. The deleted nucleotide was reported as nucleotide 960 in J:61488 and as nucleotide 938 in J:74211and J:83731. [MGI Ref ID J:61488]

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

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]

Sox18^Ra related

Carter TC; Phillips RJS. 1954. Ragged, a semidominant coat texture mutant J Hered 45:151-154.  [MGI Ref ID J:86]

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]

Herbertson BM; Wallace ME. 1964. Chylous ascites in newborn mice. J Med Genet 1:10-23.  [MGI Ref ID J:13089]

Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386]  [MGI Ref ID J:25255]

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]

SLEE J. 1962. Developmental morphology of the skin and hair follicles in normal and in 'ragged' mice. J Embryol Exp Morphol 10:507-29. [PubMed: 13989207]  [MGI Ref ID J:12991]

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

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]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Supply Details

Standard Supply

Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 or 1-207-288-5845. Genomic DNA is available for this strain from the Mouse DNA Resource.

General Terms and Conditions

See Terms of Use

The Jackson Laboratory's Genotype Promise

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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