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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- Terms of Use
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 CByJ.LAH-lah/+ (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 BALB/cBy Donor Strain LAH/Pas Generation N1F3 Appearance
albino, affected
Related Genotype: A/A Tyrp1b/Tyrp1b Tyrc/Tyrc Dsg4lah/Dsg4lah
albino, unaffected
Related Genotype: A/A Tyrp1b/Tyrp1b Tyrc/Tyrc Dsg4lah/+Description
Mice homozygous for the Dsg4lah mutation have thicker, stiffer skin and a fine scale within a few days of birth. The epidermal keratinocytes have a hyperproliferative phenotype. These mice fail to develop normal fur, and have alopecia and shortened vibrissae. Although all hair types are found, the hair is very sparse and is shorter and more rough than normal. Rather than the normal gradual transition of keratinocytes from proliferation to differentiation in the lower hair follicle, the lanceolate hair mice show a premature, abrupt switch. Above the melanogenic zone, a swelling forms that subsequently is pushed out by continued growth of the hair shaft to become the distal tip of the hair. Lanceolate hair mice take their name from the resulting lance-head shape of the hair. Homozygotes can breed, but heterozygous females are better mothers than homozygotes. Unlike Dsg4lah-J homozygotes, Dsg4lah homozygotes do not have growth retardation. Mice homozygous for either Dsg4lah or Dsg4lah-J have elevated serum IgE. (Montagutelli et al., 1996; Sundberg et al., 2000; Kljuic et al., 2003.)Development
The lanceolate hair (lah) mutation, later identified as an allele of the desmoglein 4 (Dsg4) gene (Kljuic et al. 2003), was discovered during inbreeding of progeny of a chemically mutagenized mouse. 8-week old male mice of a stock homozygous for seven recessive mutations (a, Tyrp1b, p, Tyrc-ch, Ednrbs, Myo5ad and Bmp5se)(Russell 1951) were treated with ethylnitrosourea and bred to BALB/cByJ females. Several independent lines were established from these crosses by more than 10 generations of sister-brother inbreeding. Mice with alopecia were found during development of one of these lines, and a subline segregating for Dsg4lah was established by crossing homozygous males with their heterozygous sisters. After 20 generations of such inbreeding, this line became the segregating inbred strain LAH. The congenic strain CByJ.LAH-Dsg4lah was created by crossing LAH and BALB/cByJ mice, then backcrossing Dsg4lah carriers, identified by progeny testing, to BALB/cByJ mice for 4 additional generations (to N5) in the laboratory of Dr. Xavier Montagutelli at Unit&#-23; de G&#-23;n&#-23;tique des Mammif&#-24;res, Institut Pasteur, Paris (Montagutelli et al. 1996; Montagutelli, personal communication, 1999). The strain was imported to The Jackson Laboratory by Dr. John P. Sundbergin 1996; upon their arrival, Dsg4lah/Dsg4lah males were crossed to female BALB/cByJ mice. Dr. Sundberg donated offspring of the first-generation progeny of these crosses to the Mouse Mutant Resource. After initial crosses of pairs that may have been siblings or half siblings, the strain was maintained by sister-brother inbreeding. Embryos were preserved from crosses of heterozygous females and homozygous males.
Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Dsg4
002838 DBA/1LacJ-Dsg4lah-J/J View Strains carrying other alleles of Dsg4 (1 strain)
Additional Web Information
Congenic Nomenclature
Phenotype
Phenotype Information
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Dsg4lah/Dsg4lah
LAH/PasThis mouse can be used to support research in many areas including:Dsg4lah related
Cell Biology Research
Cell Cycle Regulation
Defects in Cell Adhesion Molecules
Genes Regulating Growth and Proliferation
Signal Transduction
Dermatology Research
Skin and Hair Texture Defects
Developmental Biology Research
Defects in Cell Adhesion Molecules
Skin and Hair Texture Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Dsg4lah | ||
|---|---|---|---|
| Allele Name | lanceolate hair | ||
| Allele Type | Chemically induced (ENU) | ||
| Strain of Origin | NB | ||
| Gene Symbol and Name | Dsg4, desmoglein 4 | ||
| Chromosome | 18 | ||
| Gene Common Name(s) | CDGF13; CDHF13; LAH; lah; lanceolate hair; | ||
| Molecular Note | The mutation in the lah allele was identified as an A to C transversion at nucleotide 587 within exon 6. The mutation causes a tyrosine to serine change at amino acid position 196 affecting a potential phosphorylation site. [MGI Ref ID J:83118] | ||
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
Kljuic A; Bazzi H; Sundberg JP; Martinez-Mir A; O'Shaughnessy R; Mahoney MG; Levy M; Montagutelli X; Ahmad W; Aita VM; Gordon D; Uitto J; Whiting D; Ott J; Fischer S; Gilliam TC; Jahoda CA; Morris RJ; Panteleyev AA; Nguyen VT; Christiano AM. 2003. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113(2):249-60. [PubMed: 12705872] [MGI Ref ID J:83118]
Montagutelli X; Hogan ME; Aubin G; Lalouette A; Guenet JL; King LE Jr; Sundberg JP. 1996. Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J Invest Dermatol 107(1):20-5. [PubMed: 8752833] [MGI Ref ID J:33849]
Sundberg JP; Boggess D; Bascom C; Limberg BJ; Shultz LD; Sundberg BA; King LE Jr; Montagutelli X. 2000. Lanceolate hair-J (lahJ): a mouse model for human hair disorders. Exp Dermatol 9(3):206-18. [PubMed: 10839719] [MGI Ref ID J:83117]
Dsg4lah relatedBazzi H; Martinez-Mir A; Kljuic A; Christiano AM. 2005. Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. J Investig Dermatol Symp Proc 10(3):222-4. [PubMed: 16382669] [MGI Ref ID J:104686]
Kljuic A; Bazzi H; Sundberg JP; Martinez-Mir A; O'Shaughnessy R; Mahoney MG; Levy M; Montagutelli X; Ahmad W; Aita VM; Gordon D; Uitto J; Whiting D; Ott J; Fischer S; Gilliam TC; Jahoda CA; Morris RJ; Panteleyev AA; Nguyen VT; Christiano AM. 2003. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 113(2):249-60. [PubMed: 12705872] [MGI Ref ID J:83118]
Montagutelli X; Hogan ME; Aubin G; Lalouette A; Guenet JL; King LE Jr; Sundberg JP. 1996. Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J Invest Dermatol 107(1):20-5. [PubMed: 8752833] [MGI Ref ID J:33849]
Health & husbandry
Health & Colony Maintenance Information
Currently there no information available for this strain. This may be due to the supply level of this strain.
Purchasing information
Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| 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.Ordering and Purchasing Information
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