strain-details - INFRAFRONTIER

Information from provider

Status	Under development - register interest
EMMA ID	EM:13504
International strain name	C57BL/6NCrl-Enpp1^{em1(IMPC)Ccpcz}/Ph
Alternative name
Strain type	Endonuclease-mediated
Allele/Transgene symbol	Enpp1^{em1(IMPC)Ccpcz}
Gene/Transgene symbol	Enpp1

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

Generalized arterial calcification of infancy / Orphanet_51608
Pseudoxanthoma elasticum / Orphanet_758
Autosomal recessive hypophosphatemic rickets / Orphanet_289176
Hypopigmentation-punctate palmoplantar keratoderma syndrome / Orphanet_324561

IMPC phenotypes (allele matching)

abnormal vertebrae morphology / IMPC
abnormal scapula morphology / IMPC
abnormal rib morphology / IMPC
lordosis / IMPC
abnormal heart morphology / IMPC
enlarged heart / IMPC
abnormal cranium morphology / IMPC
abnormal mammary gland morphology / IMPC
abnormal spleen morphology / IMPC
enlarged spleen / IMPC
abnormal thymus morphology / IMPC
small thymus / IMPC
decreased body weight / IMPC
decreased locomotor activity / IMPC
abnormal gait / IMPC
decreased exploration in new environment / IMPC
abnormal startle reflex / IMPC
male infertility / IMPC
female infertility / IMPC
abnormal caudal vertebrae morphology / IMPC
abnormal joint morphology / IMPC
abnormal sinus arrhythmia / IMPC
abnormal spine curvature / IMPC
long tibia / IMPC
vertebral fusion / IMPC
abnormal auditory brainstem response / IMPC
decreased heart rate / IMPC
cardiovascular system phenotype / IMPC
abnormal thoracic cage shape / IMPC
prolonged RR interval / IMPC
increased airway resistance / IMPC
abnormal skin coloration / IMPC
increased freezing behavior / IMPC

IMPC phenotypes (gene matching)

abnormal auditory brainstem response / IMPC
vertebral fusion / IMPC
prolonged RR interval / IMPC
lordosis / IMPC
abnormal spleen morphology / IMPC
abnormal caudal vertebrae morphology / IMPC
increased airway resistance / IMPC
abnormal vertebrae morphology / IMPC
cardiovascular system phenotype / IMPC
abnormal skin coloration / IMPC
abnormal mammary gland morphology / IMPC
decreased heart rate / IMPC
decreased body weight / IMPC
small thymus / IMPC
abnormal heart morphology / IMPC
abnormal rib morphology / IMPC
abnormal scapula morphology / IMPC
long tibia / IMPC
abnormal thoracic cage shape / IMPC
abnormal thymus morphology / IMPC
abnormal gait / IMPC
decreased exploration in new environment / IMPC
abnormal startle reflex / IMPC
abnormal cranium morphology / IMPC
abnormal sinus arrhythmia / IMPC
abnormal joint morphology / IMPC
abnormal spine curvature / IMPC
enlarged spleen / IMPC
male infertility / IMPC
increased freezing behavior / IMPC
female infertility / IMPC
enlarged heart / IMPC
decreased locomotor activity / IMPC

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-Enpp1^{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-Enpp1em1(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-Enpp1^{em1(IMPC)Ccpcz}/Ph