C3HeB/FeJ-Krt1^Mhdadsk12/Ieg

Status	Available to order
EMMA ID	EM:01265
International strain name	C3HeB/FeJ-Krt1^Mhdadsk12/Ieg
Alternative name	DSK12
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Krt1^Mhdadsk12
Gene/Transgene symbol	Krt1

Information from provider

Provider	Martin Hrabe de Angelis
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	Skin: pigmentation anomalies.
Phenotypic information	Skin: pigmentation anomalies.
Breeding history	More than 2 times backcrossed to C3HeB/FeJ.
References	Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192 A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.;McGowan Kelly A, Aradhya Swaroop, Fuchs Helmut, de Angelis Martin H, Barsh Gregory S, ;2006;The Journal of investigative dermatology;126;1013-6; 16528356 Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany

Disease and phenotype information

MGI allele-associated human disease models

epidermolytic hyperkeratosis / DOID:4603

Orphanet associated rare diseases, based on orthologous gene matching

Epidermolytic palmoplantar keratoderma / Orphanet_2199
Striate palmoplantar keratoderma / Orphanet_50942
KRT1-related diffuse nonepidermolytic keratoderma / Orphanet_530838
Autosomal dominant epidermolytic ichthyosis / Orphanet_312
Ichthyosis hystrix of Curth-Macklin / Orphanet_79503
Annular epidermolytic ichthyosis / Orphanet_281139
Congenital reticular ichthyosiform erythroderma / Orphanet_281190

IMPC phenotypes (gene matching)

increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number / IMPC
increased effector memory T-helper cell number / IMPC
abnormal epididymis morphology / IMPC
decreased grip strength / IMPC
enlarged heart / IMPC
abnormal heart morphology / IMPC
abnormal lung morphology / IMPC
small testis / IMPC
abnormal thymus morphology / IMPC
increased CD8-positive, naive alpha-beta T cell number / IMPC
small epididymis / IMPC
abnormal testis morphology / IMPC
increased spleen weight / IMPC
abnormal seminal vesicle morphology / IMPC
abnormal spleen morphology / IMPC
enlarged thymus / IMPC
enlarged spleen / IMPC
increased effector memory CD8-positive, alpha-beta T cell number / IMPC
thick ventricular wall / IMPC
decreased NK cell number / IMPC
decreased circulating chloride level / IMPC

MGI phenotypes (allele matching)

hyperpigmentation / MGI
scaly skin / MGI
blistering / MGI
hyperkeratosis / MGI
acanthosis / MGI
abnormal skin pigmentation / MGI
epidermal desquamation / MGI
dehydration / MGI
postnatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

abnormal cerebellar granule layer morphology / MGI
hyperpigmentation / MGI
scaly skin / MGI
blistering / MGI
epidermal desquamation / MGI
hyperkeratosis / MGI
weight loss / MGI
dehydration / MGI
abnormal vasculogenesis / MGI
acanthosis / MGI
abnormal skin morphology / MGI
abnormal skin pigmentation / MGI
abnormal blood cell morphology/development / MGI
impaired skin barrier function / MGI
increased vascular permeability / MGI
abnormal interleukin secretion / MGI
abnormal circulating interleukin level / MGI
increased circulating interleukin-18 level / MGI
abnormal corneocyte envelope morphology / MGI
postnatal lethality, complete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI

Literature references

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.;Hrabé de Angelis M H, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R, ;2000;Nature genetics;25;444-7; 10932192
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis.;McGowan Kelly A, Aradhya Swaroop, Fuchs Helmut, de Angelis Martin H, Barsh Gregory S, ;2006;The Journal of investigative dermatology;126;1013-6; 16528356
Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants.;Fuchs H, Schughart K, Wolf E, Balling R, Hrabé de Angelis M, ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;528-30; 10886017

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Order

Availabilities

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

Frozen sperm. 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

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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C3HeB/FeJ-Krt1Mhdadsk12/Ieg