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Strain Name:

STOCK Sgk3fz-ica/McirJ

Stock Number:

006135

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Former Name      STOCK fzica/McirJ    (Changed: 06-NOV-07 )
Genes & Alleles   Gnat2;   Gnat2cpfl3;   Sgk3;   Sgk3fz-ica;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Donating InvestigatorDr. Marius Cirlan,   Apollonia University, Iasi, Romania

Important Note
This strain is homozygous for Gnat2cpfl3, cone photoreceptor function loss 3, which affects bright light (photopic) vision.

Strain Development
This spontaneous mutation arose in a colony of albino Swiss outbred stock in 1992 at the University of Agricultural Sciences and Veterinary Medicine, Iasi, Romania. The mutation is maintained by sibling matings, reaching F16 in 2006. The Jackson Laboratory Repository imported this strain in 2006.

Mammalian Phenotype Terms assigned by genotype

Sgk3fz-ica/Sgk3fz-ica

        Swiss albino
  • skin/coat/nails phenotype
  • abnormal hair cycle (J:107373)
    • acceleration of cycle
    • telogen phase shortened
  • abnormal hair follicle development (J:107373)
    • by day 5, stage 8 follicles exhibit a curved shape and few hair shafts are found within the follicular infundibulum
    • premature catagen induction, shortened telogen, and early anagen development observed by day 12
  • abnormal hair follicle structure (J:107373)
    • follicles exhibit a curved shape with thin hypodermal connective tissue
    • follicles are smaller than wildtype
  • abnormal hair shaft morphology (J:107373)
    • hair shafts are thin and few penetrate the skin by day 8
    • shaft consists of cuticle and cortex only
    • shaft lacks trichohyalin granules
    • abnormal hair cuticle (J:107373)
      • Huxley layer contains multiple large intracytoplasmic vacuoles, evidence of cell fragmentation, and trychohyalin granules of variable and irregular size
    • abnormal hair medulla (J:107373)
      • hair shafts lack a distinctive medulla by day 8
  • accelerated hair follicle regression (J:107373)
    • catagen observed by day 12; characterized by keratinocyte apoptosis
  • alopecia (J:107373)
    • from the front region, by age of 20-30 days, the weak, underdeveloped sparse hairs are lost the pups remain completely lacking of hairs
    • during the following 4-5 months, another 2-3 growth waves of sparse fuzzy hairs occur; then the adults remain without a coat with the exception of a perinasal tuft and some short hairs at the tail base
  • sparse hair (J:107373)
    • starting at the day 6 until 10-12 days of age, homozygous pups have on their body sparse, short, thin, and fuzzy hairs
  • thickened epidermis (J:107373)
    • despite thickening, epidermal keratinization process is normal
  • touch/vibrissae phenotype
  • curly vibrissae (J:107373)
    • homozygotes have curly vibrissae throughout their lives
  • immune system phenotype
  • abnormal inflammatory response (J:107373)
    • inflammatory cell infiltrates observed around hair shafts lying within the dermal mescenchyme

Gene & Allele Details

Allele Symbol Sgk3fz-ica
Allele Name iasi congenital atrichia
Strain of OriginSwiss albino
Gene Symbol and Name Sgk3, serum/glucocorticoid regulated kinase 3
Chromosome 1
Gene Common Name(s) 2510015P22Rik; A330005P07Rik; CISK; DKFZp781N0293; RIKEN cDNA 2510015P22 gene; RIKEN cDNA A330005P07 gene; SGK2; SGKL; cytokine-independent survival kinase; frowzy; fuzzy; fy; fz;
Molecular Note A spontaneous mutant identified in the Genetics Laboratory at Faculty of Veterinary Medicine, Iasi, Romania, this mutant was determinied to be an allele at the fz locus via complementation analysis. Reverse transcription-polymerase chain reaction (RT-PCR) analysis of mutant DNA detected an excessively long mRNA that was shown to be the product of abnormal RNA splicing consequent to insertion of a class II retrotransposon into the third intron. [J:125551]
 
Allele Symbol Gnat2cpfl3
Allele Name cone photoreceptor function loss 3
Common Name(s) Gnat2;
Strain of Originvarious
Gene Symbol and Name Gnat2, guanine nucleotide binding protein, alpha transducing 2
Chromosome 3
Gene Common Name(s) ACHM4; AW490837; GNATC; Gnat-2; Gt-2; Tcalpha; expressed sequence AW490837;
General Note This allele has been detected in the following strains either by genotyping or complementation testing: ALS/LtJ, SENCARA/PtJ, SENCARB/PtJ, SENCARC/PtJ, PN/nBSwUmabJ. (J:122428)

Phenotypic Similarity to Human Syndrome in Orthologous Human Gene: OMIM +139340 ACHROMATOPSIA 4.

Molecular Note A single nucleotide substitution of G to A at position 598 in exon 6. This mutation converts codon 200 from apartic acid to asparagine. [J:122428]

Control Information

  Control
   None Available
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Gnat2cpfl3 allele
002448   129S1/SvImJ
003072   ALS/LtJ
006180   CD10/JlsJ
005052   PN/nBSwUmabJ
002746   SENCARA/PtJ
002747   SENCARB/PtJ
002748   SENCARC/PtJ
003773   STOCK Tg(CAG-ECFP)CK6Nagy/J
005645   STOCK Tg(CAG-mRFP1)1F1Hadj/J
004623   STOCK Tg(Fos-lacZ)34Efu/J
005667   STOCK Tg(Neurog3-cre)C1Able/J
003262   STOCK Tg(Trp53A135V)L3Ber/J
005104   STOCK Tg(tetO-HIST1H2BJ/GFP)47Efu/J
005699   STOCK Tg(tetO-Ipf1,EGFP)956.6Macd/J
View Strains carrying   Gnat2cpfl3     (14 strains)

Strains carrying other alleles of Sgk3
000112   B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
000275   V/LeJ
View Strains carrying other alleles of Sgk3     (2 strains)

Research Applications

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

Sgk3fz-ica related

Dermatology Research
Skin and Hair Texture Defects

References

Selected Reference(s)

Mecklenburg L; Tobin DJ; Cirlan MV; Craciun C; Paus R. 2005. Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fzica) mice points to fuzzy as a key element of hair cycle control. Exp Dermatol 14(8):561-70. [PubMed: 16026577]  [J:107373]

Additional References

Price and Supply Information

Strain Name: STOCK Sgk3fz-ica/McirJ
Stock Number: 006135

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.

LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

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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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