129S5;B6N-Chd7^{tm2a(EUCOMM)Wtsi}/WtsiCnbc

Status	Available to order
EMMA ID	EM:04817
International strain name	129S5;B6N-Chd7^{tm2a(EUCOMM)Wtsi}/WtsiCnbc
Alternative name	EPD0019_1_D07
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Chd7^{tm2a(EUCOMM)Wtsi}
Gene/Transgene symbol	Chd7
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 EPD0019_1_D07. 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

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

Omenn syndrome / Orphanet_39041
Normosmic congenital hypogonadotropic hypogonadism / Orphanet_432
Kallmann syndrome / Orphanet_478
CHARGE syndrome / Orphanet_138

IMPC phenotypes (allele matching)

preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

decreased body weight / IMPC
preweaning lethality, complete penetrance / IMPC
increased circulating glucose level / IMPC
decreased lean body mass / IMPC
abnormal locomotor activation / IMPC
decreased body length / IMPC

MGI phenotypes (allele matching)

circling / MGI
head bobbing / MGI
hyperactivity / MGI
decreased lumbar vertebrae number / MGI
abnormal behavior / MGI
thin atrioventricular cushion / MGI
embryonic growth arrest / MGI
thin myocardium / MGI
increased cardiomyocyte apoptosis / MGI
cardiovascular system phenotype / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
decreased fetal cardiomyocyte proliferation / MGI
abnormal epigenetic regulation of gene expression / MGI

MGI phenotypes (gene matching)

abnormal malleus morphology / MGI
abnormal lateral semicircular canal morphology / MGI
abnormal middle ear morphology / MGI
thin atrioventricular cushion / MGI
long snout / MGI
abnormal pulmonary trunk morphology / MGI
abnormal hindlimb morphology / MGI
small thymus / MGI
abnormal corpus callosum morphology / MGI
abnormal telencephalon morphology / MGI
abnormal parietal lobe morphology / MGI
abnormal frontal lobe morphology / MGI
abnormal hippocampus morphology / MGI
absent hippocampus / MGI
dilated lateral ventricles / MGI
dilated third ventricle / MGI
abnormal brain development / MGI
abnormal telencephalon development / MGI
abnormal sensory neuron innervation pattern / MGI
abnormal cranial nerve morphology / MGI
abnormal vagus nerve morphology / MGI
abnormal trigeminal ganglion morphology / MGI
decreased body weight / MGI
decreased body size / MGI
dry eyes / MGI
abnormal maternal nurturing / MGI
abnormal stationary movement / MGI
circling / MGI
bidirectional circling / MGI
hyperactivity / MGI
head bobbing / MGI
abnormal motor coordination/balance / MGI
impaired swimming / MGI
impaired righting response / MGI
abnormal placing response / MGI
embryonic growth arrest / MGI
postnatal growth retardation / MGI
edema / MGI
thymus hypoplasia / MGI
increased susceptibility to otitis media / MGI
hydroencephaly / MGI
hemorrhage / MGI
reduced fertility / MGI
reduced male fertility / MGI
reduced female fertility / MGI
postnatal lethality / MGI
premature death / MGI
abnormal eye morphology / MGI
abnormal outer ear morphology / MGI
abnormal internal nares morphology / MGI
abnormal semicircular canal morphology / MGI
thin myocardium / MGI
abnormal pharyngeal arch artery morphology / MGI
head shaking / MGI
small olfactory bulb / MGI
abnormal posterior semicircular canal morphology / MGI
abnormal inner ear canal fusion / MGI
abnormal neural crest cell migration / MGI
ectopic thymus / MGI
abnormal superior semicircular canal morphology / MGI
abnormal external female genitalia morphology / MGI
absent lateral semicircular canal / MGI
decreased lateral semicircular canal size / MGI
absent posterior semicircular canal / MGI
decreased posterior semicircular canal size / MGI
increased cardiomyocyte apoptosis / MGI
abnormal auditory tube / MGI
aorta coarctation / MGI
abnormal subclavian artery morphology / MGI
absent olfactory bulb / MGI
abnormal vestibulocochlear ganglion morphology / MGI
abnormal ear development / MGI
interrupted aortic arch / MGI
delayed embryo turning / MGI
abnormal crista ampullaris morphology / MGI
abnormal embryonic neuroepithelium morphology / MGI
abnormal stapes footplate morphology / MGI
small otic vesicle / MGI
increased cochlear inner hair cell number / MGI
increased cochlear outer hair cell number / MGI
abnormal crista ampullaris neuroepithelium morphology / MGI
absent cochlear microphonics / MGI
decreased cochlear nerve compound action potential / MGI
abnormal round window morphology / MGI
fusion of glossopharyngeal and vagus nerve / MGI
decreased lumbar vertebrae number / MGI
abnormal vestibular nerve morphology / MGI
abnormal distortion product otoacoustic emission / MGI
abnormal common crus morphology / MGI
abnormal behavior / MGI
abnormal neuronal precursor proliferation / MGI
abnormal neuronal precursor cell number / MGI
abnormal incus morphology / MGI
abnormal stapes morphology / MGI
coloboma / MGI
head tossing / MGI
hearing/vestibular/ear phenotype / MGI
endocrine/exocrine gland phenotype / MGI
cardiovascular system phenotype / MGI
abnormal otic vesicle development / MGI
abnormal cardiac outflow tract development / MGI
abnormal digit development / MGI
abnormal optic eminence morphology / MGI
abnormal nasal pit morphology / MGI
impaired hearing / MGI
abnormal fourth pharyngeal arch artery morphology / MGI
abnormal sixth pharyngeal arch artery morphology / MGI
small hippocampus / MGI
abnormal neocortex morphology / MGI
clitoris hypoplasia / MGI
abnormal secondary palate development / MGI
cleft secondary palate / MGI
abnormal olfactory lobe morphology / MGI
decreased total body fat amount / MGI
ventricular septal defect / MGI
aortic arch coarctation / MGI
increased periosteum thickness / MGI
postnatal lethality, incomplete penetrance / MGI
embryonic lethality, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
preweaning lethality, incomplete penetrance / MGI
decreased fetal cardiomyocyte proliferation / MGI
increased cranium height / MGI
increased or absent threshold for auditory brainstem response / MGI
abnormal epigenetic regulation of gene expression / MGI
decreased embryonic neuroepithelium thickness / MGI
abnormal common carotid artery morphology / MGI
Rathke's pouch hypoplasia / MGI
keratoconjunctivitis sicca / MGI
decreased palatal rugae number / MGI
abnormal incudomalleolar joint morphology / MGI
abnormal stapes head morphology / MGI
small stapes obturator foramen / MGI
abnormal stapes crus morpholgy / 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
Chd7 Collaborates with Sox2 to Regulate Activation of Oligodendrocyte Precursor Cells after Spinal Cord Injury.;Doi Toru, Ogata Toru, Yamauchi Junji, Sawada Yasuhiro, Tanaka Sakae, Nagao Motoshi, ;2017;The Journal of neuroscience : the official journal of the Society for Neuroscience;37;10290-10309; 28931573
Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.;Collins Stephan C, Vancollie Valerie E, Mikhaleva Anna, Wagner Christel, Balz Rebecca, Lelliott Christopher J, Yalcin Binnaz, ;2022;International journal of molecular sciences;23;; 36232804

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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^*
Frozen sperm. 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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129S5;B6N-Chd7tm2a(EUCOMM)Wtsi/WtsiCnbc