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Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation +N1 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.)
Strains carrying other alleles of Sox18
000018 B6.Cg-Sox18Ra/J 000125 B6By.Cg-Sox18Ra Pt Os/J 000508 B6D2-Sox18Ra-Op/J 000267 ROP/GnLeJ View Strains carrying other alleles of Sox18 (4 strains)
View Research Applications
Currently there is no phenotype information for this strain.Research Applications
This mouse can be used to support research in many areas including:Sox18Ra-J related
Dermatology Research
Skin and Hair Texture Defects
| Allele Symbol | Sox18Ra-J | ||
|---|---|---|---|
| Allele Name | ragged Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | RaJ; | ||
| Strain of Origin | C3H/HeSnJ | ||
| 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 |
The phenotypes of Ra and RaJ have been described as indistinguishable. | ||
| 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] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Optimizing PCR Protocols
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 relatedDonahue 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]
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]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
| Pricing for International shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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 for further information. |
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| Supply Notes |
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