strain-details - INFRAFRONTIER

Information from provider

Status	Available to order
EMMA ID	EM:16067
Citation information	RRID:IMSR_EM:16067 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	Mbd5tm1c(EUCOMM)Wtsi/Ics
Alternative name	Mbd5tm1c(EUCOMM)Wtsi/Ics
Strain type	Targeted Mutant Strains : Conditional mutation
Allele/Transgene symbol	Mbd5^{tm1c(EUCOMM)Wtsi}
Gene/Transgene symbol	Mbd5

Provider	ICS, Institut Clinique de la Souris
Provider affiliation	ICS, Institut Clinique de la Souris
Genetic information	"Condition ready" (floxed) allele obtained from the line STOCK Mbd5^{tm1a(EUCOMM)Wtsi}/Ics (EMMA strain EM:10029). The L1L2_Bact_P cassette was removed by flp-mediated recombination using a flpo deleter mouse (MGI:5285396).
Phenotypic information	Homozygous: N/A Heterozygous: N/A
Breeding history	Pure C57BL/6N genetic background. Current background: C57BL/6N 0.2013%, C57BL/6NCrl 37.5%, C57BL/6NTac 62.2987%
References	Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.;Meziane Hamid, Birling Marie-Christine, Wendling Olivia, Leblanc Sophie, Dubos Aline, Selloum Mohammed, Pavlovic Guillaume, Sorg Tania, Kalscheuer Vera M, Billuart Pierre, Laumonnier Frédéric, Chelly Jamel, van Bokhoven Hans, Herault Yann, ;2022;Biomedicines;10;; 36551904
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	no

Disease and phenotype information

Archiving centre	ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal dominant non-syndromic intellectual disability / Orphanet_178469

IMPC phenotypes (gene matching)

decreased locomotor activity / IMPC
decreased leukocyte cell number / IMPC
short tibia / IMPC
decreased total retina thickness / IMPC
abnormal lip morphology / IMPC
decreased lymphocyte cell number / IMPC
preweaning lethality, complete penetrance / IMPC
decreased exploration in new environment / IMPC

MGI phenotypes (gene matching)

abnormal nasal bone morphology / MGI
hypoglycemia / MGI
decreased body weight / MGI
decreased body size / MGI
abnormal social investigation / MGI
impaired coordination / MGI
increased grooming behavior / MGI
postnatal growth retardation / MGI
abnormal learning/memory/conditioning / MGI
abnormal motor capabilities/coordination/movement / MGI
abnormal glucose homeostasis / MGI
increased brain weight / MGI
decreased circulating insulin level / MGI
increased insulin sensitivity / MGI
decreased liver weight / MGI
abnormal response to novel object / MGI
decreased circulating insulin-like growth factor I level / MGI
decreased growth hormone level / MGI
cachexia / MGI
improved glucose tolerance / MGI
small pituitary gland / MGI
behavior/neurological phenotype / MGI
decreased circulating glucose level / MGI
abnormal neurite morphology / MGI
decreased subcutaneous adipose tissue amount / MGI
decreased abdominal adipose tissue amount / MGI
decreased gonadal fat pad weight / MGI
decreased grip strength / MGI
integument phenotype / MGI
postnatal lethality, complete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI

Literature references

Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.;Meziane Hamid, Birling Marie-Christine, Wendling Olivia, Leblanc Sophie, Dubos Aline, Selloum Mohammed, Pavlovic Guillaume, Sorg Tania, Kalscheuer Vera M, Billuart Pierre, Laumonnier Frédéric, Chelly Jamel, van Bokhoven Hans, Herault Yann, ;2022;Biomedicines;10;; 36551904

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.

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).

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

Mbd5tm1c(EUCOMM)Wtsi/Ics

Information from provider

Information from EMMA

Disease and phenotype information

Literature references

Information on how we integrate external resources can be found here

Availabilities

Practical information

Other EMMA strains