strain-details - INFRAFRONTIER

Information from provider

Status	Under development - register interest
EMMA ID	EM:12489
International strain name	C57BL/6NCrl-Krt1^{em1(IMPC)Ccpcz}/Ph
Alternative name
Strain type	Endonuclease-mediated
Allele/Transgene symbol	Krt1^{em1(IMPC)Ccpcz}
Gene/Transgene symbol	Krt1

Provider	Institute of Molecular Genetics
Provider affiliation	Department of Transgenic Models of Diseases, Institute of Molecular Genetics
Genetic information	This mouse line originates from CRISPR zygote microinjection. For further details see the project page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Disease and phenotype information

Archiving centre	Institute of Molecular Genetics, Prague, Czech Republic

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 (allele matching)

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

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 (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

Information on how we integrate external resources can be found here

Availabilities

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

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), as well as a CRISPR surcharge.

Practical information

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

C57BL/6NCrl-Krt1^{em1(IMPC)Ccpcz}/Ph

Information from provider

Information from EMMA

Disease and phenotype information

Information on how we integrate external resources can be found here

Availabilities

Practical information

Other EMMA strains

C57BL/6NCrl-Krt1em1(IMPC)Ccpcz/Ph

Information from provider

Information from EMMA

Disease and phenotype information

Information on how we integrate external resources can be found here

Availabilities

Practical information

Other EMMA strains

C57BL/6NCrl-Krt1^{em1(IMPC)Ccpcz}/Ph