C57BL/6N-Acan^{tm1a(EUCOMM)Hmgu}/H

Status	Available to order
EMMA ID	EM:10224
Citation information	RRID:IMSR_EM:10224 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	C57BL/6N-Acan^{tm1a(EUCOMM)Hmgu}/H
Alternative name	HEPD0602_5_G11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Acan^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Acan
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	MRC, Medical Research Council
Provider affiliation	Mary Lyon Centre at MRC Harwell
Genetic information	This mouse line originates from EUCOMM ES clone HEPD0602_5_G11. 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	Aggrecan Directs Extracellular Matrix-Mediated Neuronal Plasticity.;Rowlands Daire, Lensjø Kristian K, Dinh Tovy, Yang Sujeong, Andrews Melissa R, Hafting Torkel, Fyhn Marianne, Fawcett James W, Dick Gunnar, ;2018;The Journal of neuroscience : the official journal of the Society for Neuroscience;38;10102-10113; 30282728

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous C57BL/6NTac males
Breeding at archiving centre	The mutation is coisogenic on a C57BL/6NTac background

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Short stature-advanced bone age-early-onset osteoarthritis syndrome / Orphanet_435804
Familial osteochondritis dissecans / Orphanet_251262
Spondyloepiphyseal dysplasia, Kimberley type / Orphanet_93283
Spondyloepimetaphyseal dysplasia, aggrecan type / Orphanet_171866

IMPC phenotypes (gene matching)

increased circulating HDL cholesterol level / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (gene matching)

abnormal organ of Corti morphology / MGI
cleft palate / MGI
abnormal trabecular bone morphology / MGI
abnormal vertebrae morphology / MGI
abnormal vertebral body morphology / MGI
abnormal rib morphology / MGI
kyphosis / MGI
lordosis / MGI
abnormal cartilage development / MGI
abnormal chondrocyte morphology / MGI
short snout / MGI
flattened snout / MGI
short limbs / MGI
abnormal liver morphology / MGI
enlarged liver / MGI
abnormal spinal cord morphology / MGI
abnormal lung morphology / MGI
pulmonary hypoplasia / MGI
obese / MGI
distended abdomen / MGI
abnormal gait / MGI
aphagia / MGI
cardiac hypertrophy / MGI
respiratory failure / MGI
respiratory distress / MGI
deafness / MGI
premature death / MGI
abnormal limb morphology / MGI
abnormal craniofacial bone morphology / MGI
no abnormal phenotype detected / MGI
disproportionate dwarf / MGI
brachydactyly / MGI
brachypodia / MGI
abnormal joint morphology / MGI
short femur / MGI
abnormal tracheal cartilage morphology / MGI
decreased susceptibility to induced arthritis / MGI
polyhydramnios / MGI
abnormal intervertebral disk morphology / MGI
short humerus / MGI
abnormal cochlear inner hair cell morphology / MGI
absent cochlear outer hair cells / MGI
absent caudal vertebrae / MGI
intervertebral disk degeneration / MGI
decreased length of long bones / MGI
short vertebral column / MGI
small thoracic cavity / MGI
abnormal cochlear IHC afferent innervation pattern / MGI
cardiomyopathy / MGI
abnormal limb development / MGI
protruding tongue / MGI
neonatal lethality, complete penetrance / MGI
increased or absent threshold for auditory brainstem response / MGI
short basicranium / MGI

Literature references

Aggrecan Directs Extracellular Matrix-Mediated Neuronal Plasticity.;Rowlands Daire, Lensjø Kristian K, Dinh Tovy, Yang Sujeong, Andrews Melissa R, Hafting Torkel, Fyhn Marianne, Fawcett James W, Dick Gunnar, ;2018;The Journal of neuroscience : the official journal of the Society for Neuroscience;38;10102-10113; 30282728
Astrocytes require perineuronal nets to maintain synaptic homeostasis in mice.;Tewari Bhanu P, Woo AnnaLin M, Prim Courtney E, Chaunsali Lata, Patel Dipan C, Kimbrough Ian F, Engel Kaliroi, Browning Jack L, Campbell Susan L, Sontheimer Harald, ;2024;Nature neuroscience;27;1475-1488; 39020018

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 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
Tissue - Types of tissue, 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)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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C57BL/6N-Acantm1a(EUCOMM)Hmgu/H