B6Brd;B6N-Tyr^c-Brd Mcph1^{tm1a(EUCOMM)Wtsi}/WtsiCnbc

Status	Available to order
EMMA ID	EM:04808
International strain name	B6Brd;B6N-Tyr^c-Brd Mcph1^{tm1a(EUCOMM)Wtsi}/WtsiCnbc
Alternative name	EPD0080_2_A02
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Mcph1^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Mcph1
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider	Wellcome Trust Sanger Institute
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	This mouse line originates from EUCOMM ES clone EPD0080_2_A02. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131 Mcph1-deficient mice reveal a role for MCPH1 in otitis media.;Chen Jing, Ingham Neil, Clare Simon, Raisen Claire, Vancollie Valerie E, Ismail Ozama, McIntyre Rebecca E, Tsang Stephen H, Mahajan Vinit B, Dougan Gordon, Adams David J, White Jacqueline K, Steel Karen P, ;2013;PloS one;8;e58156; 23516444 Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.;DiTommaso Tia, Jones Lynelle K, Cottle Denny L, null null, Gerdin Anna-Karin, Vancollie Valerie E, Watt Fiona M, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, Sundberg John P, White Jacqueline K, Smyth Ian M, ;2014;PLoS genetics;10;e1004705; 25340873

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive primary microcephaly / Orphanet_2512

IMPC phenotypes (allele matching)

atrophy / IMPC
hypoplasia / IMPC

IMPC phenotypes (gene matching)

atrophy / IMPC
hypoplasia / IMPC

MGI phenotypes (allele matching)

microcephaly / MGI
small gonad / MGI
microphthalmia / MGI
abnormal lens morphology / MGI
cataract / MGI
abnormal cornea morphology / MGI
corneal opacity / MGI
disorganized retinal layers / MGI
abnormal reproductive system morphology / MGI
abnormal fertility/fecundity / MGI
abnormal auditory brainstem response / MGI
increased B cell number / MGI
abnormal eye anterior chamber morphology / MGI
abnormal corneal stroma morphology / MGI
corneal vascularization / MGI
absent pinna reflex / MGI
chromosomal instability / MGI
decreased bone mineral content / MGI
decreased bone trabecula number / MGI
decreased trabecular bone mass / MGI
decreased trabecular bone volume / MGI
increased cornea thickness / MGI
persistent hyaloid artery / MGI
decreased bone mineral density / MGI
decreased body weight / MGI
abnormal eye pigmentation / MGI
increased thermal nociceptive threshold / MGI
decreased lean body mass / MGI

MGI phenotypes (gene matching)

decreased bone mineral density / MGI
microcephaly / MGI
decreased brain size / MGI
abnormal brain development / MGI
small gonad / MGI
small testis / MGI
decreased body weight / MGI
microphthalmia / MGI
abnormal lens morphology / MGI
cataract / MGI
abnormal cornea morphology / MGI
corneal opacity / MGI
abnormal eye pigmentation / MGI
disorganized retinal layers / MGI
increased mortality induced by gamma-irradiation / MGI
infertility / MGI
male infertility / MGI
female infertility / MGI
increased thermal nociceptive threshold / MGI
increased cellular sensitivity to gamma-irradiation / MGI
premature death / MGI
abnormal reproductive system morphology / MGI
abnormal fertility/fecundity / MGI
abnormal seminiferous tubule morphology / MGI
abnormal T cell physiology / MGI
absent ovarian follicles / MGI
no phenotypic analysis / MGI
abnormal cell cycle / MGI
increased neuron apoptosis / MGI
testicular atrophy / MGI
abnormal chromosome morphology / MGI
decreased lean body mass / MGI
induced chromosome breakage / MGI
abnormal mitosis / MGI
abnormal auditory brainstem response / MGI
increased susceptibility to autoimmune diabetes / MGI
ovary atrophy / MGI
decreased ovary weight / MGI
decreased male germ cell number / MGI
abnormal neuronal precursor proliferation / MGI
abnormal immune tolerance / MGI
increased B cell number / MGI
abnormal male meiosis / MGI
abnormal eye anterior chamber morphology / MGI
abnormal corneal stroma morphology / MGI
immune system phenotype / MGI
reproductive system phenotype / MGI
corneal vascularization / MGI
thin cerebral cortex / MGI
absent pinna reflex / MGI
abnormal spermatid morphology / MGI
arrest of male meiosis / MGI
abnormal male germ cell apoptosis / MGI
thin cortical plate / MGI
abnormal cortical intermediate zone morphology / MGI
abnormal neocortex morphology / MGI
decreased survivor rate / MGI
chromosomal instability / MGI
abnormal mitotic spindle morphology / MGI
abnormal neuron differentiation / MGI
decreased bone mineral content / MGI
decreased bone trabecula number / MGI
decreased trabecular bone mass / MGI
decreased trabecular bone volume / MGI
perinatal lethality, incomplete penetrance / MGI
increased cornea thickness / MGI
persistent hyaloid artery / MGI

Literature references

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131
Mcph1-deficient mice reveal a role for MCPH1 in otitis media.;Chen Jing, Ingham Neil, Clare Simon, Raisen Claire, Vancollie Valerie E, Ismail Ozama, McIntyre Rebecca E, Tsang Stephen H, Mahajan Vinit B, Dougan Gordon, Adams David J, White Jacqueline K, Steel Karen P, ;2013;PloS one;8;e58156; 23516444
Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.;DiTommaso Tia, Jones Lynelle K, Cottle Denny L, null null, Gerdin Anna-Karin, Vancollie Valerie E, Watt Fiona M, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, Sundberg John P, White Jacqueline K, Smyth Ian M, ;2014;PLoS genetics;10;e1004705; 25340873

Information on how we integrate external resources can be found here

Order

Availabilities

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

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), service fee and delivery time available upon request

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).

More details on pricing and delivery times

Practical information

Genotyping protocol

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

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B6Brd;B6N-Tyrc-Brd Mcph1tm1a(EUCOMM)Wtsi/WtsiCnbc