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Former Name	B6.Cg-fz H54 Mlphln/+ H54 +/J    (Changed: 06-NOV-07 )
	B6.Cg-fz Mlphln H54/+ + H54/J    (Changed: 15-DEC-04 )
	B6.Cg-fz ln H54/+ + H54    (Changed: 15-DEC-04 )
Genes & Alleles	H54;   Mlph;   Mlphln;   Sgk3;   Sgk3fz;   ;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Species laboratory mouse Background Strain C57BL/6J Donor Strain fz , CFW stock at Carworth Farms; Mlphln, C57BR; H54, C57BR Generation N11p

Mammalian Phenotype Terms assigned by genotype The following phenotype information may relate to a genetic background differing from this JAX® Mice strain. Sgk3fz/Sgk3fz         CFW stock skin/coat/nails phenotype abnormal coat/ hair morphology (J:90) noticed in new truncal coat by 6 days of age abnormal hair cycle (J:15247) period of active hair growth is reduced abnormal hair follicle morphology (J:15247) follicles fail to lengthen, the bulb remaining small and rounded abnormal dermal papilla (J:15247) cell size and arrangement is abnormal is the result of an abnormal interaction of dermis and epidermis abnormal hair texture (J:90) coat is uneven abnormal hair types (J:90) all hair types are present but are thin and curly waved hair (J:90) coat is slightly delayed and uneven with new generations of hair, coat is thicker and curlier abnormal epidermal layer morphology (J:5551) dermal-epidermal exchange experiments show mutant epidermis is unable to produce normal hair in response to dermal signals touch/vibrissae phenotype wavy vibrissae (J:90) whiskers are thin and slightly waved noticed between birth and 2 days

Gene & Allele Details

Allele Symbol		Mlphln
Allele Name		leaden
Common Name(s)		leaden; ln;
Strain of Origin		C57BR
Gene Symbol and Name		Mlph, melanophilin
Chromosome		1
Gene Common Name(s)		2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; DNA segment, Chr 1, Wayne State University 84, expressed; MGC2771; MGC59733; SLAC2-A; Slac-2a; expressed sequence AW228792; l(1)-3Rk; l1Rk3; leaden; lethal, Chr 1, Roderick 3; ln;
General Note		In its effect on coat color the leaden mouse is indistinguishable from the dilute mouse. Like dilute, this allele causes clumping of melanin granules into larger masses, but no change in color of the pigment. The clumping is due to the shape of the melanocytes, which have fewer and thinner dendritic processes than wild-type melanocytes (J:12970). These melanocytes are more easily dislodged from fixed sites in the hair bulb and incorporated into the developing hair, resulting in large clumps of pigmentin the hair shaft (J:5095). By use of chimeras and dermal-epidermal recombination grafts, the site of action was shown to be in the melanocytes (J:8167).
Molecular Note		This allele has a C to T transition at mRNA nucleotide position 266. This introduces a stop codon in the sequence of the normally spliced transcript and it also creates a new splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. [J:71302]
Allele Symbol		Sgk3fz
Allele Name		fuzzy
Strain of Origin		CFW stock
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		This mutation comprises insertion of a single adenine following nucleotide 579 of the cDNA sequence, in a region encoded by exon 10 of the gene, that causes a shift in the amino acid reading frame and premature termination of protein translation following leucine 192 (Leu192Ter), which resides in the serine/threonine kinase domain. [J:125551]
Gene Symbol and Name		H54, histocompatibility 54
Chromosome		1
Gene Common Name(s)		H(ln); histocompatibility(ln);

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Related Strains

Strains carrying   Mlph^ln allele

000668	C57L/J
000643	DW/J Mlphln Pou1f1dw/J
002902	STOCK Pax3Sp Mlphln/J
000275	V/LeJ

View Strains carrying   Mlph^ln     (4 strains)

Strains carrying   Sgk3^fz allele

000275

V/LeJ

View Strains carrying   Sgk3^fz     (1 strain)

Additional Web Information

Congenic Nomenclature

Research Applications

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

H54 related

Immunology and Inflammation Research
CD Antigens, Antigen Receptors, and Histocompatibility Markers

Mlph^ln related

Dermatology Research
Color and White Spotting Defects

Sgk3^fz related

Skin and Hair Texture Defects

References

Additional References

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Price and Supply Information

Strain Name:	B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
Stock Number:	000112

Price Details

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Supply Details

Standard Supply	Repository-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. Genomic DNA is available for this strain from the Mouse DNA Resource.
Licensing	See General Terms and Conditions below

General Terms and Conditions

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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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