C57BL/6N-Col11a2^{tm1a(KOMP)Wtsi}/Ieg

Status	Available to order
EMMA ID	EM:09208
International strain name	C57BL/6N-Col11a2^{tm1a(KOMP)Wtsi}/Ieg
Alternative name	EPD0898_3_F06
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Col11a2^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Col11a2
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	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	This mouse line originates from KOMP ES clone EPD0898_3_F06. 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	None available

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C57BL/6NTacUSA, wild-type C57BL/6NTacUSA
Stage of embryos	2-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Otospondylomegaepiphyseal dysplasia / Orphanet_1427
Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
Fibrochondrogenesis / Orphanet_2021
Autosomal dominant otospondylomegaepiphyseal dysplasia / Orphanet_166100
Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635

IMPC phenotypes (gene matching)

decreased cardiac output / IMPC
decreased mean corpuscular volume / IMPC
preweaning lethality, incomplete penetrance / IMPC
increased startle reflex / IMPC
decreased circulating triglyceride level / IMPC
increased circulating unsaturated transferrin level / IMPC
increased lean body mass / IMPC
increased circulating bilirubin level / IMPC

MGI phenotypes (gene matching)

abnormal nasal bone morphology / MGI
abnormal chondrocyte morphology / MGI
abnormal cranium morphology / MGI
short snout / MGI
decreased body size / MGI
postnatal growth retardation / MGI
abnormal tectorial membrane morphology / MGI
enlarged tectorial membrane / MGI
sensorineural hearing loss / MGI
nonsyndromic hearing loss / MGI
impaired hearing / MGI
disorganized long bone epiphyseal plate / MGI
abnormal articular cartilage morphology / MGI
increased or absent threshold for auditory brainstem response / MGI
triangular face / MGI
prominent forehead / MGI

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.

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).

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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C57BL/6N-Col11a2tm1a(KOMP)Wtsi/Ieg