C.129P2(B6)-Krt10^tm1Tmm/H

Status	Available to order
EMMA ID	EM:02463
International strain name	C.129P2(B6)-Krt10^tm1Tmm/H
Alternative name	K10T+/-
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Krt10^tm1Tmm
Gene/Transgene symbol	Krt10

Information from provider

Provider	Rebecca Porter
Provider affiliation	Cardiff University
Additional owner	Prof. Thomas Magin, Institute of Physiological Chemistry, Bonn, Germany
Genetic information	The targeting vector was constructed from a 129P2/OlaHsd mouse genomic library and designed to replace exons 3-7 of the K10 gene by the mouse HPRT minigene (Porter et al., 1996). The hypoxanthin-phosphoribosyl-transferase (HPRT) minigene was flanked by sequences homologous to the K10 locus (short arm homology: 1.2 kb, long arm of homology: 2.7 kb) and an HSV-TK (herpes simplex virus thymidine kinase) cassette. The construct was cloned into a Bluescript II SK+ vector (Stratagene) and electroporated into HM-1 ES cells.
Phenotypic information	K10T mice show a phenotype in the epidermis and in tongue, esophagus and forestomach. Homozygous pups die on the first day after birth from dehydration due to generalised blistering within the epidermis. Heterozygous mice look normal at birth and develop a progressive thickening of the skin and hyperkeratosis. Their skin is scaly. Heterozygotes breed normally.
References	Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.;Porter R M, Leitgeb S, Melton D W, Swensson O, Eady R A, Magin T M, ;1996;The Journal of cell biology;132;925-36; 8603923 Out of balance: consequences of a partial keratin 10 knockout.;Reichelt J, Bauer C, Porter R, Lane E, Magin V, ;1997;Journal of cell science;0;2175-86; 9378767 The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIE.;Porter R M, Reichelt J, Lunny D P, Magin T M, Lane E B, ;1998;The Journal of investigative dermatology;110;951-7; 9620304 Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis.;Reichelt J, Doering T, Schnetz E, Fartasch M, Sandhoff K, Magin A M, ;1999;The Journal of investigative dermatology;113;329-34; 10469329

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

epidermolytic hyperkeratosis / DOID:4603

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal dominant epidermolytic ichthyosis / Orphanet_312
Autosomal recessive epidermolytic ichthyosis / Orphanet_512103
Annular epidermolytic ichthyosis / Orphanet_281139
Congenital reticular ichthyosiform erythroderma / Orphanet_281190

MGI phenotypes (allele matching)

scaly ears / MGI
abnormal autopod morphology / MGI
abnormal foot pad morphology / MGI
reddish skin / MGI
scaly skin / MGI
flaky skin / MGI
abnormal epidermis suprabasal layer morphology / MGI
abnormal epidermis stratum spinosum morphology / MGI
abnormal epidermis stratum granulosum morphology / MGI
hyperkeratosis / MGI
decreased body weight / MGI
abnormal skin morphology / MGI
abnormal tail morphology / MGI
increased susceptibility to infection / MGI
translucent skin / MGI
blistering / MGI
abnormal epidermis stratum basale morphology / MGI
abnormal epidermis stratum corneum morphology / MGI
acanthosis / MGI
decreased skin tensile strength / MGI
neonatal lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

scaly ears / MGI
ruffled hair / MGI
abnormal autopod morphology / MGI
abnormal foot pad morphology / MGI
enlarged sebaceous gland / MGI
reddish skin / MGI
scaly skin / MGI
flaky skin / MGI
translucent skin / MGI
blistering / MGI
abnormal epidermal layer morphology / MGI
epidermal hyperplasia / MGI
abnormal epidermis stratum basale morphology / MGI
abnormal epidermis suprabasal layer morphology / MGI
abnormal epidermis stratum spinosum morphology / MGI
abnormal epidermis stratum granulosum morphology / MGI
abnormal epidermis stratum corneum morphology / MGI
hyperkeratosis / MGI
decreased body weight / MGI
acanthosis / MGI
decreased incidence of induced tumors / MGI
abnormal skin morphology / MGI
abnormal tail morphology / MGI
increased susceptibility to infection / MGI
abnormal sebaceous lipid secretion / MGI
decreased skin tensile strength / MGI
greasy coat / MGI
abnormal stratum corneum lipid matrix formation / MGI
hypergranulosis / MGI
increased keratohyalin granule size / MGI
neonatal lethality, complete penetrance / MGI
increased sebum secretion / MGI
abnormal sebocyte morphology / MGI
abnormal sebocyte differentiation / MGI
increased sebocyte proliferation / MGI

Literature references

Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.;Porter R M, Leitgeb S, Melton D W, Swensson O, Eady R A, Magin T M, ;1996;The Journal of cell biology;132;925-36; 8603923
Out of balance: consequences of a partial keratin 10 knockout.;Reichelt J, Bauer C, Porter R, Lane E, Magin V, ;1997;Journal of cell science;0;2175-86; 9378767
The relationship between hyperproliferation and epidermal thickening in a mouse model for BCIE.;Porter R M, Reichelt J, Lunny D P, Magin T M, Lane E B, ;1998;The Journal of investigative dermatology;110;951-7; 9620304
Normal ultrastructure, but altered stratum corneum lipid and protein composition in a mouse model for epidermolytic hyperkeratosis.;Reichelt J, Doering T, Schnetz E, Fartasch M, Sandhoff K, Magin A M, ;1999;The Journal of investigative dermatology;113;329-34; 10469329

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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^*
Tissue - Types of tissue, service fee and delivery time available upon request

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C.129P2(B6)-Krt10tm1Tmm/H