Description

Strain Information

Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse

Description
The overall appearance of mice homozygous for either the Scd1^ab-J allele or the Scd1^ab-2J allele (Stock No. 002304 or 005956) includes slightly hunched posture, dry, scaly skin, thin fur sometimes detectable by 7 days of age, and small eyes with encrusted eyelids stuck shut. They have hypoplasia of the sebaceous glands and other hair follicle abnormalities that result in scarring alopecia. These mice have a paucity of adipose tissue, thin subcutis, and a distinctive odor. Hepatic cholesterol ester and triglyceride synthesis has been shown to be deficient in Scd1^ab-J homozygotes and could not be restored through diet. Early studies of skin lipids in the original asebia mutant (Scd1^ab) revealed a deficiency in wax esters, wax diesters, and sterols esterified with very long-chain fatty acids along with an increase in free sterols. (Wilkinson and Darasek 1966; Sundberg et al. 1994; Zheng et al. 1999; Miyazaki et al. 2000; Sundberg et al. 2000)

Mice homozygous for the Scd1^ab-2J allele have greater dermal inflammatory infiltrate in the skin and thicker epidermis than do Scd1^ab-J mice. Scd1^ab-2J homozygotes show an increased transepidermal water loss and corresponding ad libitum intake of water that is not seen in Scd1^ab-J homozygotes. For a thorough description see Sundberg et al. 2000 and Sundberg 1994.

Control Information

	Control
	None Available
Considerations for Choosing Controls

Related Strains

Strains carrying   Scd1^ab-2J allele

002304

DBA/1LacJ-Scd1ab-2J/J

View Strains carrying   Scd1^ab-2J     (1 strain)

Strains carrying other alleles of Scd1

006201

B6.129-Scd1tm1Ntam/J

View Strains carrying other alleles of Scd1     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Scd1^ab-2J/Scd1^ab-2J

        DBA/1LacJ-Scd1^ab-2J/J

• behavior/neurological phenotype
• hunched posture   (MGI Ref ID J:62699)
• increased fluid intake   (MGI Ref ID J:62699)
• homeostasis/metabolism phenotype
• abnormal lipid level
  • mice exhibit a reduction in skin surface lipids such as sterol esters and cholesterol with a total loss of diol esters unlike in wild-type mice   (MGI Ref ID J:62699)
• impaired skin barrier function
  • transepidermal water loss is increased 4.5-fold compared to in wild-type mice   (MGI Ref ID J:62699)
• immune system phenotype
• granulomatous inflammation
  • hair shafts rupture through the base of the hair follicle and induce a foreign body granuloma in the dermal stroma resulting in dermal scarring and eventually scarring of the hair follicle   (MGI Ref ID J:62699)
• renal/urinary system phenotype
• polyuria
  • urine output is increased by 2% compared to in wild-type mice   (MGI Ref ID J:62699)
• endocrine/exocrine gland phenotype
• abnormal meibomian gland morphology
  • small   (MGI Ref ID J:62699)
• sebaceous gland atrophy
  • at day 6 mice have very small sebaceous glands compared to in wild-type mice   (MGI Ref ID J:62699)
  • mice have small meibomian, perianal and cerimous glands   (MGI Ref ID J:62699)
  • however, preputial, clitoral, lingual, Harderian and lacrimal glands are normal   (MGI Ref ID J:62699)
• vision/eye phenotype
• abnormal meibomian gland morphology
  • small   (MGI Ref ID J:62699)
• integument phenotype
• abnormal hair cycle
  • follicles stay in anagen longer than in wild-type mice   (MGI Ref ID J:62699)
  • while few follicles continue to cycle, with each cycle there is a progressive loss of individual follicles   (MGI Ref ID J:62699)
• abnormal hair follicle morphology
  • hair shafts rupture through the base of the hair follicle and induce a foreign body granuloma in the dermal stroma resulting in dermal scarring and eventually scarring of the hair follicle   (MGI Ref ID J:62699)
• • abnormal hair follicle bulb morphology
    • hair follicle bulbar histology is distorted compared to in wild-type mice   (MGI Ref ID J:62699)
  • abnormal hair follicle inner root sheath morphology
    • the inner root sheath is retained beyond the midfollicle into the outer piliary canal unlike in wild-type mice   (MGI Ref ID J:62699)
  • enlarged hair follicles
    • during the first anagen stage the hair follicles are unusually long and extend at a sharp angle into the deep subcutis unlike in wild-type mice   (MGI Ref ID J:62699)
• abnormal hair shaft morphology
  • hair shafts rupture through the base of the hair follicle and induce a foreign body granuloma in the dermal stroma resulting in dermal scarring and eventually scarring of the hair follicle   (MGI Ref ID J:62699)
• abnormal meibomian gland morphology
  • small   (MGI Ref ID J:62699)
• abnormal skin morphology
  • mice exhibit thicker than normal epidermis, Malphigian layer and stratum corneum   (MGI Ref ID J:62699)
• • acanthosis   (MGI Ref ID J:62699)
  • dry skin   (MGI Ref ID J:62699)
  • flaky skin
    • moderate white flaking is observed when hair is removed unlike in wild-type mice   (MGI Ref ID J:62699)
  • orthokeratosis
    • mice exhibit varying degrees of orthokeratotic hyperkeratosis   (MGI Ref ID J:62699)
  • parakeratosis
    • in focal areas   (MGI Ref ID J:62699)
  • scaly skin   (MGI Ref ID J:62699)
  • thick dermal layer   (MGI Ref ID J:62699)
  • thick epidermis   (MGI Ref ID J:62699)
• impaired skin barrier function
  • transepidermal water loss is increased 4.5-fold compared to in wild-type mice   (MGI Ref ID J:62699)
• matted coat   (MGI Ref ID J:62699)
• sebaceous gland atrophy
  • at day 6 mice have very small sebaceous glands compared to in wild-type mice   (MGI Ref ID J:62699)
  • mice have small meibomian, perianal and cerimous glands   (MGI Ref ID J:62699)
  • however, preputial, clitoral, lingual, Harderian and lacrimal glands are normal   (MGI Ref ID J:62699)
• sparse hair   (MGI Ref ID J:62699)

View Research Applications

Research Applications

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

Scd1^ab-2J related

Cardiovascular Research
Hypotriglyceridemia

Dermatology Research
Skin and Hair Texture Defects

Internal/Organ Research
Adipose Defects

Metabolism Research
Lipid Metabolism

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Scd1ab-2J
Allele Name		asebia 2 Jackson
Allele Type		Spontaneous
Strain of Origin		DBA/1LacJ
Gene Symbol and Name		Scd1, stearoyl-Coenzyme A desaturase 1
Chromosome		19
Gene Common Name(s)		AA589638; AI265570; FADS5; MSTP008; SCD; SCDOS; Scd-1; ab; asebia; expressed sequence AA589638; expressed sequence AI265570; stearoyl-CoA desaturase;
Molecular Note		An 18 bp deletion in the exon 2/intron 2 boundary. [MGI Ref ID J:58283]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

Scd1^ab-2J related

MacDonald ML; Singaraja RR; Bissada N; Ruddle P; Watts R; Karasinska JM; Gibson WT; Fievet C; Vance JE; Staels B; Hayden MR. 2008. Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice. J Lipid Res 49(1):217-29. [PubMed: 17960025]  [MGI Ref ID J:130278]

MacDonald ML; van Eck M; Hildebrand RB; Wong BW; Bissada N; Ruddle P; Kontush A; Hussein H; Pouladi MA; Chapman MJ; Fievet C; van Berkel TJ; Staels B; McManus BM; Hayden MR. 2009. Despite antiatherogenic metabolic characteristics, SCD1-deficient mice have increased inflammation and atherosclerosis. Arterioscler Thromb Vasc Biol 29(3):341-7. [PubMed: 19095997]  [MGI Ref ID J:160858]

Macdonald ML; Bissada N; Vallance BA; Hayden MR. 2009. Absence of stearoyl-CoA desaturase-1 does not promote DSS-induced acute colitis. Biochim Biophys Acta 1791(12):1166-72. [PubMed: 19695343]  [MGI Ref ID J:164853]

Nikonova L; Koza RA; Mendoza T; Chao PM; Curley JP; Kozak LP. 2008. Mesoderm-specific transcript is associated with fat mass expansion in response to a positive energy balance. FASEB J 22(11):3925-37. [PubMed: 18644838]  [MGI Ref ID J:157437]

Sundberg JP; Boggess D; Sundberg BA; Eilertsen K; Parimoo S; Filippi M; Stenn K. 2000. Asebia-2J (Scd1(ab2J)): a new allele and a model for scarring alopecia. Am J Pathol 156(6):2067-75. [PubMed: 10854228]  [MGI Ref ID J:62699]

Zheng Y; Eilertsen KJ; Ge L; Zhang L; Sundberg JP; Prouty SM; Stenn KS; Parimoo S. 1999. Scd1 is expressed in sebaceous glands and is disrupted in the asebia mouse [letter] Nat Genet 23(3):268-70. [PubMed: 10545940]  [MGI Ref ID J:58283]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           A1

Colony Maintenance

Breeding & Husbandry	The homozygotes are very poor breeders and the mutation is best maintained using heterozygous females bred to homozygous males.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.

Control Information

	Control
	None Available
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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