JAX Mouse Strain Datasheet - 000508

B6D2-Sox18^Ra-Op/J

Stock No:: 000508

Spontaneous Mutation

Cryo Recovery

Overview

The Sox18^Ra-Op allele causes a more severe phenotype than either the Sox18^Ra or Sox18^Ra-J allele. Green and Mann determined that only approximately 17% of the Sox18^Ra-Op/+ heterozygotes are born and survive to wean age. Heterozygotes have a deficiency of vibrissae, a distinguishing feature in utero and usually evident at birth, and can be distinguished at three days of age by their pink skin which, with its delayed coat development, fails to darken like that of wildtype siblings. A paucity of fur is apparent by 9 days of age and persists throughout life. Heterozygotes are smaller in overall size and many of those that die shortly after birth are cyanotic and edematous. Dead pups have glossy skin with red patches that may result from superficial hemorrhages. Homozygotes die by embryonic day 11.5. (Green and Mann, 1961; Mann, 1963.)

Genetic overview

Genetic Background	Generation

Sox18^Ra-Op

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

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Research Applications

Dermatology Research

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Base Price

Starting at:

$2,595.00 Domestic price Cryo Recovery

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Details

Detailed Description

Genetics

Sox18^Ra-Op

Allele Symbol: Sox18^Ra-Op

Allele Name	opossum
Allele Type	Spontaneous
Allele Synonym(s)	Op; Ra^Op
Gene Symbol and Name	Sox18, SRY (sex determining region Y)-box 18
Gene Synonym(s)	AI385749; HLTRS; HLTS; Ra; Ragl; Ragl; Sry-related HMG-box gene 18; expressed sequence AI385749; ragged; ragged-like
Strain of Origin	(C57BL/6J x DBA/2J)F1
Chromosome	2
Molecular Note	The mutation was identified as a deletion of a single cytosine at nucleotide 1048.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Sox18^Ra-Op related

Dermatology Research
- Skin and Hair Texture Defects

Mammalian Phenotype Terms by Genotype

Genotype: Sox18^Ra-Op/Sox18⁺
involves: C57BL/6J * DBA/2J

mortality/aging

perinatal lethality, incomplete penetrance
- many mice are dead or dying at birth
- many mice are dead or dying shortly after birth

postnatal lethality, incomplete penetrance
- edematous mice die prior to weaning
- fewer than expected mice are present at weaning

growth/size/body region phenotype

decreased body size
- at weaning mice are two-thirds the size of wild-type mice
- mice are smaller than normal from birth up to three months of age

distended abdomen
- mice that die prior to weaning exhibit swollen abdomens with perintoneal cavities filled with thin, white liquid unlike in wild-type mice

homeostasis/metabolism phenotype

cyanosis
- in some mice at birth

edema
- at birth, some mice are edematous
- mice that die around birth are edematous in the neck, shoulders, and abdominal and pleural cavities

skin edema
- mice that die around birth have edematous skin that is stretched, glossy, membranous in appearance, with red patches

integument phenotype

abnormal awl hair morphology
- mice have some awl hairs unlike in wild-type mice

abnormal hair follicle morphology
- mice lack follicles in the quiescent stage and are abnormal with bulbs that are twisted and curved unlike in wild-type mice

abnormal hair growth
- asynchronous

abnormal vibrissa morphology
- at E17, mystacial vibrissa are incomplete and post-orbital vibrissa are absent or reduced in size compared to in wild-type mice
- mice lack inter-ramal and anterior supra-orbital vibrissa unlike wild-type mice
- postoral and posterior supra-orbital vibrassa are decreased in number compared to in wild-type mice

abnormal vibrissa number
- anterior vibrissae and their follicles are absent unlike in wild-type mice

abnormal zigzag hair morphology
- some zigzag hairs are narrow, curled, lacked constrictions, and contain small medullar cells which lack pigment unlike in wild-type mice

absent auchene hairs

decreased zigzag hair amount
- only a small patch on the shoulders
- zigzag hairs are absent in the middle of the dorsum

delayed hair appearance
- at 3 days of age, mice are still pink due to sparse coat unlike wild-type mice that have developed a coat
- initiation of each follicle type is delayed compared to in wild-type mice

short vibrissae
- at E17, post-orbital vibrissa are shorter than normal

skin edema
- mice that die around birth have edematous skin that is stretched, glossy, membranous in appearance, with red patches

sparse hair

Genotype: Sox18^Ra-Op/Sox18^Ra-Op
involves: C57BL/6J * DBA/2J

mortality/aging

embryonic lethality, complete penetrance
- mice die at E11 or earlier

preweaning lethality, complete penetrance
- no mice are found (no time of observation provided)

Genotype: Sox18^Ra-Op/Sox18^Ra-Op
B6D2-Sox18^Ra-Op/J

mortality/aging

lethality throughout fetal growth and development, complete penetrance
- mice die before E14.5
- mice do not survive beyond E14.5

cardiovascular system phenotype

abnormal blood vessel morphology
- at E12.5, 67% of mice exhibit enlarged surface microvasculature in the trunk, head, proximal limb and neck unlike in wild-type mice
- at E13.5, all mice exhibit enlarged surface microvasculature compared to in wild-type mice
- at E14.5, surface microvessels, particularly around the anterior cranial region, are enlarged compared to in wild-type mice
- enlarged blood vessels frequently rupture
- subdermal microvasculature diameter is increased 21% at E12.5 and 35% at E13.5 compared to in wild-type mice
- vascular defects increase in severity with age

abnormal pericyte morphology
- fewer pericytes are recruited to microvasculature compared to in wild-type mice

abnormal vascular endothelial cell physiology
- loss of vascular integrity is due to endothelial rupture

cardiovascular system phenotype
- between E8.5 and E10.5, differentiation, proliferation, migration and association of endothelial cells, and patterning and establishment of the primary vascular plexus is normal

hematoma
- over large areas of the trunk, neck, and head

hemorrhage
- at E13.5, mice exhibit multiple regions of vascular hemorrhage unlike in wild-type mice
- at E14.5, large-scale vascular hemorrhage is observed in all mice
- enlarged blood vessels frequently rupture

increased vascular endothelial cell number
- endothelial hyperplasia is associated with defects in pericyte recruitment

homeostasis/metabolism phenotype

edema
- generalized at E13.5

skin edema
- 63% of mice exhibit severe subcutaneous edema in the trunk and neck regions un like in wild-type mice
- at E13.5

immune system phenotype

abnormal lymphatic vessel morphology
- lymphatic vessels are finer, denser, and more branched with more loops and fewer blind-ended sacs compared to in wild-type mice

integument phenotype

skin edema
- 63% of mice exhibit severe subcutaneous edema in the trunk and neck regions un like in wild-type mice
- at E13.5

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: 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: 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: 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: 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: J:61488

Additional - Sox18^Ra-Op related

Brouillard P; Boon L; Vikkula M. 2014. Genetics of lymphatic anomalies. J Clin Invest 124(3):898-904. PubMed: 24590274 MGI: J:209628
Downes M; Francois M; Ferguson C; Parton RG; Koopman P. 2009. Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation. Hum Mol Genet 18(15):2839-50. PubMed: 19429912 MGI: J:150211
Downes M; Koopman P. 2001. SOX18 and the transcriptional regulation of blood vessel development. Trends Cardiovasc Med 11(8):318-24. PubMed: 11728880 MGI: J:74211
Francois M; Caprini A; Hosking B; Orsenigo F; Wilhelm D; Browne C; Paavonen K; Karnezis T; Shayan R; Downes M; Davidson T; Tutt D; Cheah KS; Stacker SA; Muscat GE; Achen MG; Dejana E; Koopman P. 2008. Sox18 induces development of the lymphatic vasculature in mice. Nature 456(7222):643-7. PubMed: 18931657 MGI: J:143564
Green EL; Mann SJ. 1961. Opossum, a semi-dominant lethal mutation affecting hair and other characteristics of mice J Hered 52:223-7. MGI: J:260
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: J:83731
Kartopawiro J; Bower NI; Karnezis T; Kazenwadel J; Betterman KL; Lesieur E; Koltowska K; Astin J; Crosier P; Vermeren S; Achen MG; Stacker SA; Smith KA; Harvey NL; Francois M; Hogan BM. 2014. Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development. Hum Mol Genet 23(5):1286-97. PubMed: 24163130 MGI: J:206218
Mann S. 1962. Prenatal formation of hair follicle types Anat Rec 144:135-142. MGI: J:155792
Mann SJ. 1963. The phenogenetics of hair mutants in the house mouse: Opossum and Ragged Genet Res 4:1-11. MGI: J:279
Oommen S; Francois M; Kawasaki M; Murrell M; Kawasaki K; Porntaveetus T; Ghafoor S; Young NJ; Okamatsu Y; McGrath J; Koopman P; Sharpe PT; Ohazama A. 2012. Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function. PLoS One 7(9):e43857. PubMed: 22962592 MGI: J:191641
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: J:61488
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: J:30359
Wallace ME. 1966. Chylous ascites pleiotropic effect of Ra. Mouse News Lett 35:16. MGI: J:13448
Young N; Hahn CN; Poh A; Dong C; Wilhelm D; Olsson J; Muscat GE; Parsons P; Gamble JR; Koopman P. 2006. Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development. J Natl Cancer Inst 98(15):1060-7. PubMed: 16882943 MGI: J:112009

Pricing & Availability

Cryo Recovery

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Cryorecovery - Pricing

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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.

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Genetic overview

Research Applications

Base Price

Detailed Description

Sox18Ra-Op

Allele Symbol: Sox18Ra-Op

Disease Terms

Research Areas By Genotype

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

Genotype: Sox18Ra-Op related

Mammalian Phenotype Terms by Genotype

Genotype: Sox18Ra-Op/Sox18+involves: C57BL/6J * DBA/2J

mortality/aging

growth/size/body region phenotype

homeostasis/metabolism phenotype

integument phenotype

Genotype: Sox18Ra-Op/Sox18Ra-Opinvolves: C57BL/6J * DBA/2J

mortality/aging

Genotype: Sox18Ra-Op/Sox18Ra-OpB6D2-Sox18Ra-Op/J

mortality/aging

cardiovascular system phenotype

homeostasis/metabolism phenotype

immune system phenotype

integument phenotype

References

Additional References

Additional - Sox18Ra-Op related

Genotyping Protocols

Breeding Considerations

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Progeny testing is not required

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-Op

Allele Symbol: Sox18^Ra-Op

Genotype: Sox18^Ra-Op related

Genotype: Sox18^Ra-Op/Sox18⁺
involves: C57BL/6J * DBA/2J

Genotype: Sox18^Ra-Op/Sox18^Ra-Op
involves: C57BL/6J * DBA/2J

Genotype: Sox18^Ra-Op/Sox18^Ra-Op
B6D2-Sox18^Ra-Op/J

Additional - Sox18^Ra-Op related