strain-details - INFRAFRONTIER

Information from provider

Status	Available to order
EMMA ID	EM:02617
International strain name	STOCK Gtf2i^tm1Vcam/Cnbc
Alternative name	GTF2I-2loxP
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Gtf2i^tm1Vcam,
Gene/Transgene symbol	Gtf2i

Provider	Victoria Campuzano
Provider affiliation	GENETIC UNIT, CEXS, UNIVERSITAT POMPEU FABRA
Genetic information	Targeting construct is derived from 129 DNA. The deletion spans part of intron 1, exon 2 with start codon ATG, and part of intron 2.
Phenotypic information	Sensitive to high sounds. Special facial morphology. Partial viability and fertility of homozygous mutants.
References	Essential role of the N-terminal region of TFII-I in viability and behavior.;Lucena Jaume, Pezzi Susana, Aso Ester, Valero Maria C, Carreiro Candelas, Dubus Pierre, Sampaio Adriana, Segura Maria, Barthelemy Isabel, Zindel Marc Y, Sousa Nuno, Barbero José L, Maldonado Rafael, Pérez-Jurado Luis A, Campuzano Victoria, ;2010;BMC medical genetics;11;61; 20403157
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain
Animals used for archiving	heterozygous CD-1 outbred stock (syn.: outbr. CD-1 or CD1, Swiss CD-1 or CD1, ICR(CD-1), etc.), wild-type CD-1 outbred stock (syn.: outbr. CD-1 or CD1, Swiss CD-1 or CD1, ICR(CD-1), etc.)
Stage of embryos	8-cell

Disease and phenotype information

MGI allele-associated human disease models

Williams-Beuren syndrome / DOID:1928

MGI phenotypes (allele matching)

increased anxiety-related response / MGI
decreased exploration in new environment / MGI
decreased vertical activity / MGI
abnormal behavior / MGI
behavior/neurological phenotype / MGI
abnormal craniofacial morphology / MGI
short snout / MGI
broad nasal bridge / MGI
small testis / MGI
abnormal embryo development / MGI
reduced male fertility / MGI
reduced female fertility / MGI
testicular atrophy / MGI
nervous system phenotype / MGI
prenatal lethality, incomplete penetrance / MGI
embryonic lethality, incomplete penetrance / MGI
absent embryonic epiblast / MGI
decreased embryonic epiblast cell proliferation / MGI

Literature references

Essential role of the N-terminal region of TFII-I in viability and behavior.;Lucena Jaume, Pezzi Susana, Aso Ester, Valero Maria C, Carreiro Candelas, Dubus Pierre, Sampaio Adriana, Segura Maria, Barthelemy Isabel, Zindel Marc Y, Sousa Nuno, Barbero José L, Maldonado Rafael, Pérez-Jurado Luis A, Campuzano Victoria, ;2010;BMC medical genetics;11;61; 20403157

Availabilities

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

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).

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

STOCK Gtf2itm1Vcam/Cnbc