Overview

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 g...

Genetic overview

Genetic Background	Generation

Pt

Allele Type	Gene Symbol	Gene Name
Chemically induced (other)	Pt	pintail

Sox18^Ra

Allele Type	Gene Symbol	Gene Name
Spontaneous	Sox18	SRY (sex determining region Y)-box 18

Os

Allele Type	Gene Symbol	Gene Name
Radiation induced	Os	oligosyndactylism

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Research Applications

Developmental Biology Research
Internal/Organ Research
Dermatology Research

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Details

Detailed 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.)

Genetics

Pt

Allele Symbol: Pt

Allele Name	pintail
Allele Type	Chemically induced (other)
Allele Synonym(s)
Gene Symbol and Name	Pt, pintail
Gene Synonym(s)
Strain of Origin	PBR
Chromosome	4
General Note	This mutation rose in a strain protractedly treated with methylcholanthrene (MCA).
Molecular Note	This mutation was isolated at the Yale University School of Medicine in 1951.

Sox18^Ra

Allele Symbol: Sox18^Ra

Allele Name	ragged
Allele Type	Spontaneous
Allele Synonym(s)	Ra
Gene Symbol and Name	Sox18, SRY (sex determining region Y)-box 18
Gene Synonym(s)
Strain of Origin	Translocation stock
Chromosome	2
General Note	Sox18^ra, 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 few survive and may breed (J:86). Developmental studies have shown that in Sox18^ra/+ mice, growth of the late differentiating hair follicles which produce auchenes and zigzags is very retarded or arrested (J:12991). A low percentage of Sox18^ra/+ 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 Sox18^Ra, and also by two mutant genes linked to Sox18^Ra, (fi, we) and one on a different chromosome (py, Chr 1) (J:6220). The phenotypes of Sox18^Ra and Sox18^ra-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:74211 and J:83731.

Os

Allele Symbol: Os

Allele Name	Os
Allele Type	Radiation induced
Allele Synonym(s)
Gene Symbol and Name	Os, oligosyndactylism
Gene Synonym(s)
Strain of Origin	(101 x C3H)F1
Chromosome	8
General Note	Heterozygotes are affected on all four feet. Fusion usually occurs between the second and third digits and occasionally involves the fourth (J:13049). The muscles of the forearms and lower legs as well as of the feet show anomalous arrangements not necessarily correlated with the skeletal changes (J:12944). At 11 days of gestation the preaxial border of the limbs can be seen to be reduced (J:12942), and a histological examination at this time shows that there is a small amount of cellular degeneration in the preaxial part of the footplate mesoderm, leading to coalescence of the second and third digital rudiments (J:5107). Os /+ mice have a mild diabetes insipidus present at 5 weeks and increasing with age. In combination with one or more recessive modifying genes in the selected DI stock, Os/+ mice have a severe diabetes insipidus (J:12948). The cause of the diabetes is a 45% reduction in size of the kidneys with an 80% reduction in number of glomeruli. Compensatory hypertrophy of the nephrons is not sufficient to restore normal urine-concentrating ability (J:5127)(J:5128).
Molecular Note	The oligosyndactylism mutation is due to a chromosomal inversion that has breakpoints approximately 10 Mb apart. One breakpoint appears to reside in the Anapc10 gene, and an aberrant transcript consisting of part of Anapc10 and an unrelated sequence is expressed at low levels.

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Os related

Developmental Biology Research
- Skeletal Defects
  - Oligodactyly
Internal/Organ Research
- Kidney Defects
  - diabetes insipidus

Genotype: Pt related

Developmental Biology Research
- Skeletal Defects

Genotype: Sox18^Ra related

Dermatology Research
- Skin and Hair Texture Defects

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Pt/Pt⁺
involves: PBR

limbs/digits/tail phenotype

abnormal tail tip morphology
- tip of the tail is threadlike

kinked tail
- kinks are near the end of the tail

short tail
- tail length is variable but longer than tails of homozygotes

skeleton phenotype

abnormal nucleus pulposus morphology
- the reduction is less severe in heterozygotes than in homozygotes
- there is a progressive reduction, head to tail, of the nucleus pulposus

small intervertebral disk

Genotype: Pt/Pt
involves: PBR

growth/size/body region phenotype

decreased body size

limbs/digits/tail phenotype

abnormal tail tip morphology
- tail tip is thin and threadlike

kinked tail
- kinks are at the end of the tail

short tail
- tails are much shorter than those of heterozygotes

mortality/aging

decreased survivor rate
- survivors are healthy and fertile

preweaning lethality, incomplete penetrance
- there is a high preweaning mortality

skeleton phenotype

abnormal nucleus pulposus morphology
- reduction is more severe than found in heterozygous mice
- there is a progressive reduction, from head to tail, of the nucleus pulposus

small intervertebral disk

Genotype: Pt/Pt⁺
involves: CBA/Gr * PBR

embryo phenotype

abnormal notochord morphology
- at E10 there is a reduced rate of cell division in the notochord

small notochord

limbs/digits/tail phenotype

decreased caudal vertebrae number
- the number of tail vertebrae is usually reduced by a third

skeleton phenotype

decreased caudal vertebrae number
- the number of tail vertebrae is usually reduced by a third

small intervertebral disk
- a smaller than normal notochord results in smaller than normal intervertebral disks in affected areas of the tail

Genotype: Pt/Pt
involves: CBA/Gr * PBR

embryo phenotype

abnormal notochord morphology
- noticeable at E10 as a reduced rate of cell division in the notochord

small notochord

limbs/digits/tail phenotype

abnormal caudal vertebrae morphology
- caused by a notochord defect

decreased caudal vertebrae number
- there are always fewer than ten caudal vertebrae

skeleton phenotype

abnormal caudal vertebrae morphology
- caused by a notochord defect

decreased caudal vertebrae number
- there are always fewer than ten caudal vertebrae

small intervertebral disk
- smaller intervertebral discs are the result of a small notochord

Genotype: Os/Os
involves: 101 * C3H

cellular phenotype

abnormal mitosis

increased mitotic index
- E4.5 embryos have an index nine times that of controls
- more than one third of cells contain mitotic figures

embryo phenotype

decreased embryo size
- noted as early as E4.5

embryonic growth arrest
- cells of the developing embryo appear abnormal between the 7th and 8th division with suggestion of mitotic dysfunction
- in culture, blastocysts show rapid degeneration of the inner cell mass compared with control embryos
- the most striking abnormalities are seen by the middle of the 4th day when many embryonic cells contain fragmented, pycnotic chromatin and lack nuclear membrane and nucleolus

growth/size/body region phenotype

decreased embryo size
- noted as early as E4.5

mortality/aging

embryonic lethality between implantation and placentation, complete penetrance

Genotype: Os/Os⁺
B6.ROP/Le-Os/J

renal/urinary system phenotype

abnormal renal glomerulus morphology
- glomerular volume is increased 2-fold relative to controls at 3 months of age and 3-fold at 5 months of age but the glomerulosclerosis found on the ROP background is absent with only a minimal increase in extracellular matrix at 5 months of age
- the mean cell number per glomerulus is increased 21% relative to controls and the glomerular labeling index is increased 2.6 fold at 3 and 5 months of age

decreased kidney weight
- 34% reduction in kidney weight compared with controls at 3 months of age

decreased renal glomerulus number
- mean glomerular number per kidney is reduced by 50% at 3 months of age

expanded mesangial matrix
- only a minimal increase in extracellular matrix is noted at 5 months of age

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):223-5PubMed: 7665083 MGI: 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):239-47PubMed: 11179689 MGI: 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):1-6PubMed: 12748961 MGI: 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):9331-6PubMed: 11094083 MGI: 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):434-7PubMed: 10742113 MGI: J:61488
Pravtcheva DD; Wise TL. 1996. A transgene-induced mitotic arrest mutation in the mouse allelic with Oligosyndactylism. Genetics 144(4):1747-56PubMed: 8978060 MGI: J:38877
Pravtcheva DD; Wise TL. 2001. Disruption of Apc10/Doc1 in three alleles of oligosyndactylism. Genomics 72(1):78-87PubMed: 11247669 MGI: J:81567
Wallace ME. 1979. Analysis of genetic control of chylous ascites in ragged mice. Heredity (Edinb) 43(1):9-18PubMed: 291594 MGI: J:6220

Additional - Os related

Additional - Pt related

Additional - Sox18^Ra related

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Genotyping Protocols
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Citation
When using the B6By.Cg-Sox18^Ra Pt Os/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #000125 in your Materials and Methods section.

Animal Health Reports

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

Pricing & Availability

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Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Sox18<Ra>, Heterozygous or Wild-type for Pt and Heterozygous or Wild-type for Os

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Genetic overview

Research Applications

Base Price

Detailed Description

Pt

Allele Symbol: Pt

Sox18Ra

Allele Symbol: Sox18Ra

Os

Allele Symbol: Os

Disease Terms

Research Areas By Phenotype

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

Genotype: Os related

Genotype: Pt related

Genotype: Sox18Ra related

Mammalian Phenotype Terms by Genotype

Genotype: Pt/Pt+involves: PBR

limbs/digits/tail phenotype

skeleton phenotype

Genotype: Pt/Ptinvolves: PBR

growth/size/body region phenotype

limbs/digits/tail phenotype

mortality/aging

skeleton phenotype

Genotype: Pt/Pt+involves: CBA/Gr * PBR

embryo phenotype

limbs/digits/tail phenotype

skeleton phenotype

Genotype: Pt/Ptinvolves: CBA/Gr * PBR

embryo phenotype

limbs/digits/tail phenotype

skeleton phenotype

Genotype: Os/Osinvolves: 101 * C3H

cellular phenotype

embryo phenotype

growth/size/body region phenotype

mortality/aging

Genotype: Os/Os+B6.ROP/Le-Os/J

renal/urinary system phenotype

References

Additional References

Additional - Os related

Additional - Pt related

Additional - Sox18Ra related

Genotyping Protocols

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Sox18^Ra

Allele Symbol: Sox18^Ra

Genotype: Sox18^Ra related

Genotype: Pt/Pt⁺
involves: PBR

Genotype: Pt/Pt
involves: PBR

Genotype: Pt/Pt⁺
involves: CBA/Gr * PBR

Genotype: Pt/Pt
involves: CBA/Gr * PBR

Genotype: Os/Os
involves: 101 * C3H

Genotype: Os/Os⁺
B6.ROP/Le-Os/J

Additional - Sox18^Ra related