Overview

Also Known As:lanceolate hair

These mice carry an ENU-induced mutation characterized by thick skin and a failure to develop normal fur and vibrissae.

Genetic overview

Genetic Background	Generation

Dsg4^lah

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Dsg4	desmoglein 4

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Research Applications

Dermatology Research
Developmental Biology Research
Cell Biology Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed 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 Suggestions

Heterozygote from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Dsg4^lah

Allele Symbol: Dsg4^lah

Allele Name	lanceolate hair
Allele Type	Chemically induced (ENU)
Allele Synonym(s)
Gene Symbol and Name	Dsg4, desmoglein 4
Gene Synonym(s)
Strain of Origin	NB
Chromosome	18
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.

Disease/Phenotype

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

hypotrichosis 6

Research Areas By Phenotype

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

Genotype: Dsg4^lah related

Dermatology Research
- Skin and Hair Texture Defects
Developmental Biology Research
- Defects in Cell Adhesion Molecules
- Skin and Hair Texture Defects
Cell Biology Research
- Cell Cycle Regulation
- Defects in Cell Adhesion Molecules
- Genes Regulating Growth and Proliferation
- Signal Transduction

Mammalian Phenotype Terms by Genotype

The following phenotype information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Dsg4^lah/Dsg4^lah
LAH/Pas

immune system phenotype

dermatitis
- persistent epidermal thickening is associated with a non-scarring, relatively non-inflammatory ichthyosiform dermatitis

integument phenotype

abnormal coat appearance
- young homozygotes fail to develop a normal fur

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

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

abnormal hair cycle catagen phase
- catagen hair follicles exhibit marked follicular dystrophy
- Normal - in contrast, telogen hair follicles appear relatively normal

abnormal hair growth

abnormal hair shaft morphology
- cuticular scales are disrupted and the hair shaft surface is irregular and rough
- only the distal end of the hair shaft is affected, while the proximal follicular end remains normal
- plucked hairs show a characteristic focal lance-head-like 3-to 6-fold enlargement of the hair shaft at the breakpoint
- the most apical (distal) part of the hair, beyond the enlargement, is highly irregular at the breakpoint

abnormal hair texture

acanthosis
- a mild acanthosis and orthokeratosis of the interfollicular epidermis is observed

alopecia
- homozygotes display severe, generalized alopecia throughout their life

dermatitis
- persistent epidermal thickening is associated with a non-scarring, relatively non-inflammatory ichthyosiform dermatitis

distorted hair follicle pattern
- hair fibers become twisted within their follicles in catagen

epidermal hyperplasia
- epidermal and follicular hyperplasia is reduced to nearly normal as follicles enter telogen

hair follicle degeneration
- 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
- in early anagen follicles, cells just above the bulb (matrix region) undergo premature cornification and degeneration

hair follicle outer root sheath hyperplasia
- hair fiber dystrophy is associated with outer root sheath hyperplasia in catagen

hyperkeratosis
- at 19 days of age, the stratum corneum is significantly thick and scaly

rough coat
- hair of all types are rough
- hairs on the head are denser, rough, and irregular, except in large areas around the eyes

scaly skin
- skin displays a fine scale

short hair
- hair of all types are shorter than normal
- plucked hair fibers are only 2.0 to 3.5 mm in length with a normal base, suggesting a synchronized developmental defect
- truncal hairs are very short on both the dorsal and ventral surfaces

short vibrissae
- vibrissae are present but abnormally short

sparse hair
- hair of all types are sparse

thick epidermis
- at 19 days of age, the Malpighian layer (stratum basale plus stratum spinosum plus stratum granulosum) is ~2.5-fold thicker than normal
- epidermal thickness is increased in anagen to its highest thickness in catagen

thick skin
- skin is thicker and stiffer than normal

wavy vibrissae
- vibrissae are wavy

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):249-60PubMed: 12705872 MGI: 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):20-5PubMed: 8752833 MGI: 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):206-18PubMed: 10839719 MGI: J:83117

Additional - Dsg4^lah related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
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/+
Citation
When using the lanceolate hair mouse strain in a publication, please cite the originating article(s) and include JAX stock #002839 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Homozygous for Dsg4<lah>, 1 pair minimum

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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General Terms and Conditions

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Licensing Information

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Also Known As:lanceolate hair

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Dsg4lah

Allele Symbol: Dsg4lah

Disease Terms

Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

Research Areas By Phenotype

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

Genotype: Dsg4lah related

Mammalian Phenotype Terms by Genotype

Genotype: Dsg4lah/Dsg4lahLAH/Pas

immune system phenotype

integument phenotype

References

Additional References

Additional - Dsg4lah related

Genotyping Protocols

Appearance

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Dsg4^lah

Allele Symbol: Dsg4^lah

Genotype: Dsg4^lah related

Genotype: Dsg4^lah/Dsg4^lah
LAH/Pas

Additional - Dsg4^lah related