STOCK Dsg4^lah/Orl

Status	Available to order
EMMA ID	EM:01169
International strain name	STOCK Dsg4^lah/Orl
Alternative name	lanceolate hair
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Dsg4^lah
Gene/Transgene symbol	Dsg4

Information from provider

Provider	Xavier Montagutelli
Provider affiliation	Institut Pasteur
Genetic information	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.
Phenotypic information	Mice carrying mutations at this locus exhibit abnormalities in hair growth, vibrissae growth, and a thickened epidermis.
Breeding history	Bred by crossing heterozygous mice together or heterozygous by homozygous mutant mice.
References	Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair.;Montagutelli X, Hogan M E, Aubin G, Lalouette A, Guénet J L, King L E, Sundberg J P, ;1996;The Journal of investigative dermatology;107;20-5; 8752833 Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.;Kljuic Ana, Bazzi Hisham, Sundberg John P, Martinez-Mir Amalia, O'Shaughnessy Ryan, Mahoney My G, Levy Moise, Montagutelli Xavier, Ahmad Wasim, Aita Vincent M, Gordon Derek, Uitto Jouni, Whiting David, Ott Jurg, Fischer Stuart, Gilliam T Conrad, Jahoda Colin A B, Morris Rebecca J, Panteleyev Andrei A, Nguyen Vu Thuong, Christiano Angela M, ;2003;Cell;113;249-60; 12705872

Information from EMMA

Archiving centre	Institut de Transgenose, INTRAGENE, Orléans, France

Disease and phenotype information

MGI allele-associated human disease models

Netherton syndrome / DOID:0050474

Orphanet associated rare diseases, based on orthologous gene matching

Monilethrix / Orphanet_573
Hypotrichosis simplex / Orphanet_55654

MGI phenotypes (allele matching)

distorted hair follicle pattern / MGI
alopecia / MGI
sparse hair / MGI
short hair / MGI
scaly skin / MGI
dermatitis / MGI
thick skin / MGI
thick epidermis / MGI
epidermal hyperplasia / MGI
hyperkeratosis / MGI
wavy vibrissae / MGI
short vibrissae / MGI
abnormal coat appearance / MGI
acanthosis / MGI
abnormal hair growth / MGI
abnormal hair texture / MGI
hair follicle degeneration / MGI
abnormal hair shaft morphology / MGI
abnormal hair cortex morphology / MGI
abnormal hair cycle anagen phase / MGI
abnormal hair cycle catagen phase / MGI
rough coat / MGI
hair follicle outer rooth sheath hyperplasia / MGI

MGI phenotypes (gene matching)

abnormal hair follicle morphology / MGI
enlarged hair follicles / MGI
distorted hair follicle pattern / MGI
alopecia / MGI
sparse hair / MGI
short hair / MGI
deformed nails / MGI
long toenails / MGI
abnormal sebaceous gland morphology / MGI
reddish skin / MGI
abnormal skin condition / MGI
scaly skin / MGI
dermatitis / MGI
thick skin / MGI
wrinkled skin / MGI
thick epidermis / MGI
epidermal hyperplasia / MGI
hyperkeratosis / MGI
thick dermal layer / MGI
mixed cellular infiltration to dermis / MGI
decreased body weight / MGI
decreased body size / MGI
wavy vibrissae / MGI
short vibrissae / MGI
absent vibrissae / MGI
abnormal coat appearance / MGI
skin edema / MGI
acanthosis / MGI
abnormal hair growth / MGI
abnormal hair texture / MGI
abnormal skin pigmentation / MGI
increased IgE level / MGI
decreased skin tensile strength / MGI
hair follicle degeneration / MGI
parakeratosis / MGI
abnormal hair shaft morphology / MGI
abnormal hair cortex morphology / MGI
brittle hair / MGI
greasy coat / MGI
absent guard hair / MGI
abnormal peripheral lymph node morphology / MGI
decreased subcutaneous adipose tissue amount / MGI
decreased abdominal adipose tissue amount / MGI
abnormal hair cycle anagen phase / MGI
abnormal hair cycle catagen phase / MGI
decreased birth body size / MGI
rough coat / MGI
abnormal hair follicle inner root sheath morphology / MGI
hair follicle outer root sheath hyperplasia / MGI
postnatal lethality, complete penetrance / MGI
focal hair loss in abdominal region / MGI
focal hair loss in head/neck region / MGI

Literature references

Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair.;Montagutelli X, Hogan M E, Aubin G, Lalouette A, Guénet J L, King L E, Sundberg J P, ;1996;The Journal of investigative dermatology;107;20-5; 8752833
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris.;Kljuic Ana, Bazzi Hisham, Sundberg John P, Martinez-Mir Amalia, O'Shaughnessy Ryan, Mahoney My G, Levy Moise, Montagutelli Xavier, Ahmad Wasim, Aita Vincent M, Gordon Derek, Uitto Jouni, Whiting David, Ott Jurg, Fischer Stuart, Gilliam T Conrad, Jahoda Colin A B, Morris Rebecca J, Panteleyev Andrei A, Nguyen Vu Thuong, Christiano Angela M, ;2003;Cell;113;249-60; 12705872

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
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Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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STOCK Dsg4lah/Orl