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

Status	Available to order
EMMA ID	EM:05725
International strain name	B6Brd;B6N-Tyr^c-Brd Cenpj^{tm1a(EUCOMM)Wtsi}/WtsiBiat
Alternative name	EPD0028_7_G05
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Cenpj^{tm1a(EUCOMM)Wtsi},
Gene/Transgene symbol	Cenpj
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 EPD0028_7_G05. 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	Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.;McIntyre Rebecca E, Lakshminarasimhan Chavali Pavithra, Ismail Ozama, Carragher Damian M, Sanchez-Andrade Gabriela, Forment Josep V, Fu Beiyuan, Del Castillo Velasco-Herrera Martin, Edwards Andrew, van der Weyden Louise, Yang Fengtang, null null, Ramirez-Solis Ramiro, Estabel Jeanne, Gallagher Ferdia A, Logan Darren W, Arends Mark J, Tsang Stephen H, Mahajan Vinit B, Scudamore Cheryl L, White Jacqueline K, Jackson Stephen P, Gergely Fanni, Adams David J, ;2012;PLoS genetics;8;e1003022; 23166506

Information from EMMA

Archiving centre	University of Veterinary Medicine, Vienna, Austria

Disease and phenotype information

MGI allele-associated human disease models

Seckel syndrome / DOID:0050569

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive primary microcephaly / Orphanet_2512
Seckel syndrome / Orphanet_808

IMPC phenotypes (allele matching)

abnormal vertebrae morphology / IMPC
decreased circulating calcium level / IMPC
decreased monocyte cell number / IMPC
abnormal head morphology / IMPC
abnormal cranium morphology / IMPC
abnormal tibia morphology / IMPC
decreased body length / IMPC
decreased body weight / IMPC
abnormal tail movements / IMPC
hypoactivity / IMPC
decreased caudal vertebrae number / IMPC
abnormal tail morphology / IMPC
abnormal joint morphology / IMPC
abnormal external female genitalia morphology / IMPC
decreased lean body mass / IMPC
vertebral fusion / IMPC
abnormal behavior / IMPC
increased T cell number / IMPC
abnormal ulna morphology / IMPC
abnormal humerus morphology / IMPC
decreased circulating serum albumin level / IMPC
decreased circulating total protein level / IMPC
increased NK cell number / IMPC
increased CD8-positive, alpha-beta T cell number / IMPC
abnormal external male genitalia morphology / IMPC
decreased total body fat amount / IMPC
increased sacral vertebrae number / IMPC
decreased bone mineral content / IMPC

MGI phenotypes (allele matching)

abnormal parietal bone morphology / MGI
abnormal vertebrae morphology / MGI
abnormal myocardial fiber morphology / MGI
abnormal dentate gyrus morphology / MGI
decreased body length / MGI
decreased body weight / MGI
decreased body size / MGI
anophthalmia / MGI
abnormal iris morphology / MGI
abnormal social investigation / MGI
postnatal growth retardation / MGI
delayed sexual maturation / MGI
decreased brain weight / MGI
abnormal caudal vertebrae morphology / MGI
abnormal joint morphology / MGI
nervous system phenotype / MGI
abnormal retinal photoreceptor layer morphology / MGI
abnormal mitosis / MGI
polysyndactyly / MGI
decreased fetal size / MGI
abnormal iridocorneal angle / MGI
iris synechia / MGI
abnormal Descemet membrane / MGI
abnormal deltoid tuberosity morphology / MGI
bowed humerus / MGI
abnormal pelvic girdle bone morphology / MGI
caudal vertebral fusion / MGI
abnormal thoracic cage morphology / MGI
small sacral vertebrae / MGI
short lumbar vertebrae / MGI
increased T cell number / MGI
eyelids fail to open / MGI
abnormal occipital bone morphology / MGI
abnormal glucose tolerance / MGI
abnormal humerus morphology / MGI
abnormal corneal endothelium morphology / MGI
small cranium / MGI
cellular phenotype / MGI
behavior/neurological phenotype / MGI
taste/olfaction phenotype / MGI
decreased circulating serum albumin level / MGI
abnormal cell physiology / MGI
increased CD8-positive, alpha-beta T cell number / MGI
abnormal sternocostal joint morphology / MGI
abnormal intramembranous bone ossification / MGI
retention of the adrenal gland x-zone / MGI
chromosomal instability / MGI
decreased neuron number / MGI
decreased fetal weight / MGI
abnormal mitotic spindle morphology / MGI
prenatal growth retardation / MGI
abnormal double-strand DNA break repair / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
decreased cranium length / MGI
increased embryonic tissue cell apoptosis / MGI
abnormal ciliary process morphology / MGI
sloping forehead / MGI
decreased inner canthal distance / MGI
decreased circulating calcium level / MGI
abnormal head morphology / MGI
abnormal cranium morphology / MGI
abnormal tibia morphology / MGI
abnormal femur morphology / MGI
abnormal tail movements / MGI
hypoactivity / MGI
abnormal tail morphology / MGI
decreased lean body mass / MGI
vertebral fusion / MGI
abnormal behavior / MGI
abnormal ulna morphology / MGI
decreased circulating total protein level / MGI
abnormal external male genitalia morphology / MGI
decreased total body fat amount / MGI
increased sacral vertebrae number / MGI
decreased bone mineral content / MGI

Literature references

Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome.;McIntyre Rebecca E, Lakshminarasimhan Chavali Pavithra, Ismail Ozama, Carragher Damian M, Sanchez-Andrade Gabriela, Forment Josep V, Fu Beiyuan, Del Castillo Velasco-Herrera Martin, Edwards Andrew, van der Weyden Louise, Yang Fengtang, null null, Ramirez-Solis Ramiro, Estabel Jeanne, Gallagher Ferdia A, Logan Darren W, Arends Mark J, Tsang Stephen H, Mahajan Vinit B, Scudamore Cheryl L, White Jacqueline K, Jackson Stephen P, Gergely Fanni, Adams David J, ;2012;PLoS genetics;8;e1003022; 23166506
Cenpj Regulates Cilia Disassembly and Neurogenesis in the Developing Mouse Cortex.;Ding Wenyu, Wu Qian, Sun Le, Pan Na Clara, Wang Xiaoqun, ;2019;The Journal of neuroscience : the official journal of the Society for Neuroscience;39;1994-2010; 30626697
Loss of the centrosomal protein Cenpj leads to dysfunction of the hypothalamus and obesity in mice.;Ding Wenyu, Zhang Changjiang, Wang Baisong, Zhou Xin, Sun Le, Zhong Suijuan, Liu Jing, Zhang Junjing, Wang Xiaoqun, Wu Qian, ;2021;Science China. Life sciences;64;419-433; 32803714
Cenpj/CPAP regulates progenitor divisions and neuronal migration in the cerebral cortex downstream of Ascl1.;Garcez Patricia P, Diaz-Alonso Javier, Crespo-Enriquez Ivan, Castro Diogo, Bell Donald, Guillemot François, ;2015;Nature communications;6;6474; 25753651

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 Cenpjtm1a(EUCOMM)Wtsi/WtsiBiat