Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names 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 ) Type Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Background Strain C57BL/6J Donor Strain fz , CFW stock at Carworth Farms; Mlphln, C57BR; H54, C57BR Generation N11p

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)

Strains carrying other alleles of Mlph

000681	DW.C3-Mlph+ Pou1f1+/J
001640	STOCK Mlphln-l1Rk3/J

View Strains carrying other alleles of Mlph     (2 strains)

Strains carrying other alleles of Sgk3

006135

STOCK Sgk3fz-ica/McirJ

View Strains carrying other alleles of Sgk3     (1 strain)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

Mlph^ln/Mlph^ln

        B6.Cg-Sgk3^fz H54 Mlph^ln/+ H54 +/J

• pigmentation phenotype
• *normal* pigmentation phenotype (MGI Ref ID J:141035)
  • mice exhibit wild-type iris pigmentation

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

Sgk3^fz/Sgk3^fz

        CFW stock

• skin/coat/nails phenotype
• abnormal coat/ hair morphology (MGI Ref ID J:90)
  • noticed in new truncal coat by 6 days of age
• abnormal hair cycle anagen phase (MGI Ref ID J:15247)
  • period of active hair growth is reduced
• abnormal hair follicle morphology (MGI Ref ID J:15247)
  • follicles fail to lengthen, the bulb remaining small and rounded
• abnormal dermal papilla (MGI Ref ID J:15247)
  • cell size and arrangement is abnormal
  • is the result of an abnormal interaction of dermis and epidermis
• abnormal hair texture (MGI Ref ID J:90)
  • coat is uneven
• abnormal hair types (MGI Ref ID J:90)
  • all hair types are present but are thin and curly
• waved hair (MGI Ref ID J:90)
  • coat is slightly delayed and uneven
  • with new generations of hair, coat is thicker and curlier
• abnormal epidermal layer morphology (MGI Ref ID 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 (MGI Ref ID J:90)
  • whiskers are thin and slightly waved
  • noticed between birth and 2 days

View Research Applications

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

Genes & Alleles

Gene & Allele Information

Allele Symbol		Mlphln
Allele Name		leaden
Allele Type		Spontaneous
Common Name(s)		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. [MGI Ref ID J:71302]
Allele Symbol		Sgk3fz
Allele Name		fuzzy
Allele Type		Spontaneous
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. [MGI Ref ID J:125551]
Gene Symbol and Name		H54, histocompatibility 54
Chromosome		1
Gene Common Name(s)		H(ln); histocompatibility(ln);

Genotyping

Genotyping Information

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

Helpful Links

Genotyping resources and troubleshooting

References

References

Additional References

Mlph^ln related

Anderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234]  [MGI Ref ID J:141035]

Fisher RA. 1953. The linkage of polydactyly with leaden in the house mouse. Heredity 7:91-95.  [MGI Ref ID J:12979]

Hauschka TS; Jacobs BB; Holdridge BA. 1968. Recessive yellow and its interaction with belted in the mouse. J Hered 59(6):339-41. [PubMed: 5713933]  [MGI Ref ID J:5110]

Hume AN; Collinson LM; Hopkins CR; Strom M; Barral DC; Bossi G; Griffiths GM; Seabra MC. 2002. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic 3(3):193-202. [PubMed: 11886590]  [MGI Ref ID J:105323]

Hume AN; Tarafder AK; Ramalho JS; Sviderskaya EV; Seabra MC. 2006. A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes. Mol Biol Cell 17(11):4720-35. [PubMed: 16914517]  [MGI Ref ID J:117973]

Karolyi IJ; Dootz GA; Halsey K; Beyer L; Probst FJ; Johnson KR; Parlow AF; Raphael Y; Dolan DF; Camper SA. 2007. Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice. Mamm Genome 18(8):596-608. [PubMed: 17899304]  [MGI Ref ID J:125708]

Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639]  [MGI Ref ID J:12970]

Matesic LE; Yip R; Reuss AE; Swing DA; O'Sullivan TN; Fletcher CF; Copeland NG; Jenkins NA. 2001. Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc Natl Acad Sci U S A 98(18):10238-43. [PubMed: 11504925]  [MGI Ref ID J:71302]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Moore KJ; Swing DA; Rinchik EM; Mucenski ML; Buchberg AM; Copeland NG; Jenkins NA. 1988. The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln. Genetics 119(4):933-41. [PubMed: 3410303]  [MGI Ref ID J:9309]

Murray JM. 1933. "Leaden", a recent color mutation in the house mouse. Am Naturalist 67:278-283.  [MGI Ref ID J:17162]

Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. [PubMed: 11256068]  [MGI Ref ID J:88013]

Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991]  [MGI Ref ID J:7327]

Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York.  [MGI Ref ID J:78801]

Stephenson DA; Glenister PH; Hornby JE. 1985. Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (Wsh) homozygotes. Genet Res 46(2):193-205. [PubMed: 3910518]  [MGI Ref ID J:8167]

Sweet SE; Quevedo WC Jr. 1968. Role of melanocyte morphology in pigmentation of mouse hair. Anat Rec 162(2):243-54. [PubMed: 5726144]  [MGI Ref ID J:5095]

Ward RD; Stone BM; Raetzman LT; Camper SA. 2006. Cell proliferation and vascularization in mouse models of pituitary hormone deficiency. Mol Endocrinol 20(6):1378-90. [PubMed: 16556738]  [MGI Ref ID J:108961]

Sgk3^fz related

Campagna DR; Custodio AO; Antiochos BB; Cirlan MV; Fleming MD. 2008. Mutations in the Serum/Glucocorticoid regulated kinase 3 (Sgk3) are responsible for the mouse Fuzzy (fz) hair phenotype J Invest Dermatol 128(3):730-2. [PubMed: 17914447]  [MGI Ref ID J:125551]

DICKIE MM; WOOLLEY GW. 1950. Fuzzy mice. J Hered 41(7):193-6. [PubMed: 14779004]  [MGI Ref ID J:90]

Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386]  [MGI Ref ID J:25255]

Hume AN; Collinson LM; Hopkins CR; Strom M; Barral DC; Bossi G; Griffiths GM; Seabra MC. 2002. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic 3(3):193-202. [PubMed: 11886590]  [MGI Ref ID J:105323]

MANN SJ. 1964. THE HAIR OF THE FUZZY MOUSE. J Hered 55:121-3. [PubMed: 14170401]  [MGI Ref ID J:13086]

Mayer TC; Mittelberger JA; Green MC. 1974. The site of action of the fuzzy locus (fz) in the mouse, as determined by dermal-epidermal recombinations. J Embryol Exp Morphol 32(3):707-13. [PubMed: 4618567]  [MGI Ref ID J:5551]

Monroe; Major MH; Hawkins MS. 1958. Hair abnormality (fz) Mouse News Lett 19:37.  [MGI Ref ID J:13377]

Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991]  [MGI Ref ID J:7327]

Sundberg JP (ed.). 1994. . In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Trigg MJ. 1972. Hair growth in mouse mutants affecting coat texture. J Zool 168:165-198.  [MGI Ref ID J:15247]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Diet Information	LabDiet® 5K52/5K67

Purchasing information

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

Pricing

Supply Details

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

Supply Notes

Cryorecovery - Standard. 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. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 13 and 16 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. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location). Genomic DNA is available for this strain from the Mouse DNA Resource.

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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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