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 DBA/1LacJ-lahJ/+    (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N2F19p Generation Definitions

Appearance
dilute brown, affected
Related Genotype: a/a Tyrp1^b/Tyrp1^b Myo5a^d/Myo5a^d Dsg4^lah-J/Dsg4^lah-J

dilute brown, unaffected
Related Genotype: a/a Tyrp1^b/Tyrp1^b Myo5a^d/Myo5a^d Dsg4^lah-J/+ or a/a Tyrp1^b/Tyrp1^b Myo5a^d/Myo5a^d +/+

Description
Mice homozygous for the Dsg4^lah-J mutation completely lack vibrissae and develop only very short hair that resembles peach fuzz. This is lost by a few months of age, leaving these mice bald. They are runted from birth throughout life. These mice have hyperplasia in the interfollicular epidermis that leads to thickened skin, and their skin wrinkles as they age. Transmission electron micrographs of epidermis from Dsg4^lah-J homozygotes reveals acantholysis with small, poorly formed, and dislodged desmosomes. 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. The less severely affected homozygotes can be used for breeding. 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.)

Control Information

	Control
	Untyped from the colony
Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Dsg4

002839

CByJ.LAH-Dsg4lah/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

Dsg4^lah-J/Dsg4^lah-J

        DBA/1LacJ

• mortality/aging
• complete postnatal lethality
  • severely affected homozygotes become weak and die before weaning   (MGI Ref ID J:83117)
• growth/size phenotype
• decreased birth body size
  • at birth, homozygotes are slightly smaller than heterozygous control mice   (MGI Ref ID J:83117)
• decreased body size
  • homozygotes remain runted throughout life   (MGI Ref ID J:83117)
• • decreased body weight
    • homozygotes exhibit reduced body weights throughout their lifespan   (MGI Ref ID J:83117)
• pigmentation phenotype
• abnormal skin pigmentation
  • at 4-8 weeks of age, the skin is slightly darker in color   (MGI Ref ID J:83117)
• immune system phenotype
• abnormal peripheral lymph node morphology
  • homozygotes display enlarged peripheral lymph nodes   (MGI Ref ID J:83117)
• dermatitis
  • affected homozygotes display ichthyosiform dermatitis   (MGI Ref ID J:83117)
• increased IgE level
  • homozygotes display significantly elevated IgE levels relative to control mice   (MGI Ref ID J:83117)
  • interestingly, IgE levels in male homozygotes are ~50% of those found in female homozygotes, indicating a sexually dichotomy   (MGI Ref ID J:83117)
• adipose tissue phenotype
• decreased abdominal adipose tissue amount
  • homozygotes exhibit significantly reduced fat reserves in the peritoneal cavity   (MGI Ref ID J:83117)
• decreased subcutaneous adipose tissue amount
  • homozygotes exhibit significantly reduced fat reserves in the subcutis   (MGI Ref ID J:83117)
• endocrine/exocrine gland phenotype
• abnormal sebaceous gland morphology
  • sebaceous glands associated with truncal hair follicles are hard to identify in anagen follicles in the second hair cycle   (MGI Ref ID J:83117)
• integument phenotype
• abnormal hair follicle morphology
  • starting at P9, all pelage hair follicles appear abnormal   (MGI Ref ID J:83117)
  • late anagen follicles initially show a focal change just above the hair bulb in the matrix region along with focal swellings of hair fibers; this "onion-skin-like" area is pushed up and out of the follicle by a relatively normal hair fiber that forms below it   (MGI Ref ID J:83117)
  • as follicles proceed into catagen, they show progressive changes leading to follicular and fiber dystrophy with severe fiber distortion, including twisting, breakage, and rupture through the follicle wall, associated with various degrees of inflammation composed of foreign body granulomas   (MGI Ref ID J:83117)
  • progression into telogen is associated with resolution of the inflammation with various degress of scarring and granulation tissue right below the epidermis   (MGI Ref ID J:83117)
• abnormal hair growth   (MGI Ref ID J:83117)
• • alopecia
    • aging homozygotes become alopecic and lose the "peach fuzz" appearance   (MGI Ref ID J:83117)
    • however, hair is still present on the head and shoulders   (MGI Ref ID J:83117)
  • short hair
    • at 4-8 weeks of age, hair is shorter than normal and close to the body, resulting in a "peach fuzz" appearance   (MGI Ref ID J:83117)
  • sparse hair
    • at 4-8 weeks of age, truncal hair is sparse   (MGI Ref ID J:83117)
• abnormal hair texture
  • mutant hairs display prominent swellings, usually at break sites, with loss of septate and septulate patterns of the hair shaft   (MGI Ref ID J:83117)
  • some fibers appear to invaginate along the length of the shaft (trichorrhexis invaginata); however, this is a hair cycle dependent feature   (MGI Ref ID J:83117)
  • a couple of homozygotes display hairs with spiral folds (pili torti) and tapered fractures, corkscrew hair with torsion nodule, lanceolate hair, and nodular swelling   (MGI Ref ID J:83117)
• abnormal sebaceous gland morphology
  • sebaceous glands associated with truncal hair follicles are hard to identify in anagen follicles in the second hair cycle   (MGI Ref ID J:83117)
• abnormal skin condition
  • affected homozygotes develop a non-inflammatory, proliferative skin disease with follicular dystrophy   (MGI Ref ID J:83117)
• • thick skin
    • by P9, homozygotes display thick folded skin   (MGI Ref ID J:83117)
    • thickness persists throughout the first 2 months of life and decreases thereafter   (MGI Ref ID J:83117)
• abnormal skin pigmentation
  • at 4-8 weeks of age, the skin is slightly darker in color   (MGI Ref ID J:83117)
• absent vibrissae
  • as early as P1, homozygotes are readily recognizable by the absence of vibrissae   (MGI Ref ID J:83117)
• acanthosis
  • starting at P9, the epidermis displays moderate acanthosis and orthokeratosis   (MGI Ref ID J:83117)
• decreased skin tensile strength
  • at 4-8 weeks of age, the skin is more fragile than normal   (MGI Ref ID J:83117)
• decreased subcutaneous adipose tissue amount
  • homozygotes exhibit significantly reduced fat reserves in the subcutis   (MGI Ref ID J:83117)
• deformed nails
  • as homozygotes age, nails on the hind feet become curled and misshapen, resembling onychogryposis   (MGI Ref ID J:83117)
  • some nails or toes undergo autoamputation such that only stubs are visible at necropsy   (MGI Ref ID J:83117)
• dermatitis
  • affected homozygotes display ichthyosiform dermatitis   (MGI Ref ID J:83117)
• hyperkeratosis
  • the stratum corneum fails to decrease in thickness within the first 2 weeks of life, resulting in an ichthyosiform phenotype   (MGI Ref ID J:83117)
• • parakeratosis
    • starting at P9, the stratum corneum displays a prominent scale with focal parakeratosis   (MGI Ref ID J:83117)
• long toenails
  • as homozygotes age, nails on the hind feet appear overgrown   (MGI Ref ID J:83117)
  • in contrast, nails on the fore feet remain normal   (MGI Ref ID J:83117)
• mixed cellular infiltration to dermis
  • starting at P9, the dermis shows a moderate increase in mixed inflammatory cells, mainly neutrophils   (MGI Ref ID J:83117)
• scaly skin
  • by P9, homozygotes display fine scaling of the skin   (MGI Ref ID J:83117)
  • scaling persists throughout the first 2 months of life   (MGI Ref ID J:83117)
• thick dermal layer
  • the dermis increases in thickness, corresponding to entry into catagen with associated follicular rupture, foreign body granuloma formation, hyperplasia of follicular root sheaths and, finally, diffuse scarring   (MGI Ref ID J:83117)
• thick epidermis
  • starting at P9   (MGI Ref ID J:83117)
• wrinkled skin
  • at 4-8 weeks of age, homozygotes display a much thicker and wrinkled skin   (MGI Ref ID J:83117)

View Research Applications

Research Applications

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

Dsg4^lah-J 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
Growth Defects
Skin and Hair Texture Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Dsg4lah-J
Allele Name		lanceolate hair Jackson
Allele Type		Spontaneous
Strain of Origin		DBA/1LacJ
Gene Symbol and Name		Dsg4, desmoglein 4
Chromosome		18
Gene Common Name(s)		CDGF13; CDHF13; LAH; lah; lanceolate hair;
Molecular Note		A spontaneous mutant found to be allelic to lah by complementation testing. The mutation in lahJ allele was identified as a single base insertion within exon 7 at following nucleotide 746. The frameshift creates a premature termination codon resulting in an unstable mRNA product. [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]

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-J 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]

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]

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

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
• Genomic DNA is available for this strain from the Mouse DNA Resource.

Control Information

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

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