Description

Strain Information

Type Mutant Stock; Spontaneous Mutation; Additional information on Genetically Engineered Mutant Mice. 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

      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

• skin/coat/nails phenotype
• abnormal hair follicle morphology (MGI Ref ID J:62699)
  • hair follicle bulbar histology is distorted compared to in wild-type mice
  • 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
  • while few follicles continue to cycle, with each cycle there is a progressive loss of individual follicles
• abnormal hair follicle development (MGI Ref ID J:62699)
  • follicles stay in anagen longer than in wild-type mice
• abnormal hair follicle root sheath (MGI Ref ID J:62699)
  • the inner root sheath is retained beyond the midfollicle into the outer piliary canal unlike in wild-type mice
• enlarged hair follicles (MGI Ref ID J:62699)
  • 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
• abnormal hair shaft morphology (MGI Ref ID J:62699)
  • 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
• abnormal skin morphology (MGI Ref ID J:62699)
  • mice exhibit thicker than normal epidermis, Malphigian layer and stratum corneum
• abnormal meibomian gland morphology (MGI Ref ID J:62699)
  • small
• acanthosis (MGI Ref ID J:62699)
• hyperkeratosis (MGI Ref ID J:62699)
  • mice exhibit varying degrees of orthokeratotic hyperkeratosis
• parakeratosis (MGI Ref ID J:62699)
  • in focal areas
• sebaceous gland atrophy (MGI Ref ID J:62699)
  • at day 6 mice have very small sebaceous glands compared to in wild-type mice
  • mice have small meibomian, perianal and cerimous glands
  • however, preputial, clitoral, lingual, Harderian and lacrimal glands are normal
• thick dermal layer (MGI Ref ID J:62699)
• dry skin (MGI Ref ID J:62699)
• flaky skin (MGI Ref ID J:62699)
  • moderate white flaking is observed when hair is removed unlike in wild-type mice
• impaired skin barrier function (MGI Ref ID J:62699)
  • transepidermal water loss is increased 4.5-fold compared to in wild-type mice
• matted coat (MGI Ref ID J:62699)
• scaly skin (MGI Ref ID J:62699)
• sparse hair (MGI Ref ID J:62699)
• behavior/neurological phenotype
• hunched posture (MGI Ref ID J:62699)
• increased drinking behavior (MGI Ref ID J:62699)
• homeostasis/metabolism phenotype
• abnormal lipid level (MGI Ref ID J:62699)
  • 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
• impaired skin barrier function (MGI Ref ID J:62699)
  • transepidermal water loss is increased 4.5-fold compared to in wild-type mice
• immune system phenotype
• granulomatous inflammation (MGI Ref ID J:62699)
  • 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
• renal/urinary system phenotype
• polyuria (MGI Ref ID J:62699)
  • urine output is increased by 2% compared to in wild-type mice
• endocrine/exocrine gland phenotype
• abnormal meibomian gland morphology (MGI Ref ID J:62699)
  • small
• sebaceous gland atrophy (MGI Ref ID J:62699)
  • at day 6 mice have very small sebaceous glands compared to in wild-type mice
  • mice have small meibomian, perianal and cerimous glands
  • however, preputial, clitoral, lingual, Harderian and lacrimal glands are normal
• vision/eye phenotype
• abnormal meibomian gland morphology (MGI Ref ID J:62699)
  • small

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

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; SCD; 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

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

Helpful Links

Optimizing PCR Protocols

References

References

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]

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.

Purchasing information

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

Pricing

Supply Details

Standard Supply

Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.

Supply Notes

Usually shipped between four and eight weeks of age. This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.

Control Information

	Control
	None Available
Considerations for Choosing Controls
USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
International - Control Pricing Information for Genetically Engineered Mutant Strains.

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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Ordering and Purchasing Information

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Terms of Use

Terms of Use

General Terms and Conditions

Contact information

General inquiries

Contracts Administration

phone:	207-288-6470
fax:	207-288-6655

JAX^® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of MICE, products or services, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

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The foregoing represents the General Terms and Conditions applicable to The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, products and services by The Jackson Laboratory, and by its licensees and distributors.

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