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 Donor Strain LAH/Pas Generation N1F3 Generation Definitions

Appearance
albino, affected
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c Dsg4^lah/Dsg4^lah

albino, unaffected
Related Genotype: A/A Tyrp1^b/Tyrp1^b Tyr^c/Tyr^c Dsg4^lah/+

Description
Mice homozygous for the Dsg4^lah 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 Dsg4^lah-J homozygotes, Dsg4^lah homozygotes do not have growth retardation. Mice homozygous for either Dsg4^lah or Dsg4^lah-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, Tyrp1^b, p, Tyr^c-ch, Ednrb^s, Myo5a^d and Bmp5^se)(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 Dsg4^lah 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-Dsg4^lah was created by crossing LAH and BALB/cByJ mice, then backcrossing Dsg4^lah carriers, identified by progeny testing, to BALB/cByJ mice for 4 additional generations (to N5) in the laboratory of Dr. Xavier Montagutelli at Unite de Genetique des Mammiferes, 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, Dsg4^lah/Dsg4^lah 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)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).

Netherton Syndrome; NETH

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Hypotrichosis 6; HYPT6   (DSG4)

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

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

Dsg4^lah/Dsg4^lah

        LAH/Pas

• immune system phenotype
• dermatitis
  • persistent epidermal thickening is associated with a non-scarring, relatively non-inflammatory ichthyosiform dermatitis   (MGI Ref ID J:33849)
• integument phenotype
• abnormal coat appearance
  • young homozygotes fail to develop a normal fur   (MGI Ref ID J:33849)
• • abnormal hair growth   (MGI Ref ID J:33849)
  • • alopecia
      • homozygotes display severe, generalized alopecia throughout their life   (MGI Ref ID J:33849)
    • short hair
      • hair of all types are shorter than normal   (MGI Ref ID J:33849)
      • truncal hairs are very short on both the dorsal and ventral surfaces   (MGI Ref ID J:33849)
      • plucked hair fibers are only 2.0 to 3.5 mm in length with a normal base, suggesting a synchronized developmental defect   (MGI Ref ID J:33849)
    • sparse hair
      • hair of all types are sparse   (MGI Ref ID J:33849)
  • abnormal hair texture   (MGI Ref ID J:33849)
  • • rough coat
      • hair of all types are rough   (MGI Ref ID J:33849)
      • hairs on the head are denser, rough, and irregular, except in large areas around the eyes   (MGI Ref ID J:33849)
• abnormal hair cycle anagen phase
  • early anagen hair follicles exhibit premature cornification above the bulb (matrix region) with degeneration resulting in focal hair shaft deformity   (MGI Ref ID J:33849)
• abnormal hair cycle catagen phase
  • catagen hair follicles exhibit marked follicular dystrophy   (MGI Ref ID J:33849)
  • in contrast, telogen hair follicles appear relatively normal   (MGI Ref ID J:33849)
• abnormal hair shaft morphology
  • plucked hairs show a characteristic focal lance-head-like 3-to 6-fold enlargement of the hair shaft at the breakpoint   (MGI Ref ID J:33849)
  • only the distal end of the hair shaft is affected, while the proximal follicular end remains normal   (MGI Ref ID J:33849)
  • cuticular scales are disrupted and the hair shaft surface is irregular and rough   (MGI Ref ID J:33849)
  • the most apical (distal) part of the hair, beyond the enlargement, is highly irregular at the breakpoint   (MGI Ref ID J:33849)
• • abnormal hair cortex morphology
    • homozygotes display bundles of electron dense material and accumulation of distorted intermediate filaments within the hair shaft cortical cells just above the area of degeneration   (MGI Ref ID J:33849)
• acanthosis
  • a mild acanthosis and orthokeratosis of the interfollicular epidermis is observed   (MGI Ref ID J:33849)
• dermatitis
  • persistent epidermal thickening is associated with a non-scarring, relatively non-inflammatory ichthyosiform dermatitis   (MGI Ref ID J:33849)
• distorted hair follicle pattern
  • hair fibers become twisted within their follicles in catagen   (MGI Ref ID J:33849)
• epidermal hyperplasia
  • epidermal and follicular hyperplasia is reduced to nearly normal as follicles enter telogen   (MGI Ref ID J:33849)
• hair follicle degeneration
  • in early anagen follicles, cells just above the bulb (matrix region) undergo premature cornification and degeneration   (MGI Ref ID J:33849)
  • a long, narrow strand of degenerating cells is often noted above the lance-head enlargement; this part breaks off as the hair shaft emerges from the skin, causing an abnormally shaped hair tip   (MGI Ref ID J:33849)
• hair follicle outer rooth sheath hyperplasia
  • hair fiber dystrophy is associated with outer root sheath hyperplasia in catagen   (MGI Ref ID J:33849)
• hyperkeratosis
  • at 19 days of age, the stratum corneum is significantly thick and scaly   (MGI Ref ID J:33849)
• scaly skin
  • skin displays a fine scale   (MGI Ref ID J:33849)
• short vibrissae
  • vibrissae are present but abnormally short   (MGI Ref ID J:33849)
• thick epidermis
  • epidermal thickness is increased in anagen to its highest thickness in catagen   (MGI Ref ID J:33849)
  • at 19 days of age, the Malpighian layer (stratum basale plus stratum spinosum plus stratum granulosum) is ~2.5-fold thicker than normal   (MGI Ref ID J:33849)
• thick skin
  • skin is thicker and stiffer than normal   (MGI Ref ID J:33849)
• wavy vibrissae
  • vibrissae are wavy   (MGI Ref ID J:33849)

View Research Applications

Research Applications

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

Dsg4^lah 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 provided by MGI

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

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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]

Dsg4^lah related

Bazzi 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

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

	Control
	Heterozygote from the colony
Considerations for Choosing Controls
Control Pricing Information for Genetically Engineered Mutant Strains.

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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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