C57BL/6N-A^tm1Brd Lmna^{tm1a(EUCOMM)Wtsi}/IcsOrl

Status	Available to order
EMMA ID	EM:09954
International strain name	C57BL/6N-A^tm1Brd Lmna^{tm1a(EUCOMM)Wtsi}/IcsOrl
Alternative name	EPD0419_6_A02
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Lmna^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Lmna
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	ICS, Institut Clinique de la Souris
Provider affiliation	ICS, Institut Clinique de la Souris
Genetic information	This mouse line originates from EUCOMM ES clone EPD0419_6_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	None available

Information from EMMA

Archiving centre	Institut de Transgenose, INTRAGENE, Orléans, France
Animals used for archiving	heterozygous C57BL/6NTac

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Familial partial lipodystrophy, Dunnigan type / Orphanet_2348
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome / Orphanet_2229
Charcot-Marie-Tooth disease type 2B1 / Orphanet_98856
Hutchinson-Gilford progeria syndrome / Orphanet_740
Heart-hand syndrome, Slovenian type / Orphanet_168796
Restrictive dermopathy / Orphanet_1662
Congenital muscular dystrophy due to LMNA mutation / Orphanet_157973
LMNA-related cardiocutaneous progeria syndrome / Orphanet_363618
Autosomal semi-dominant severe lipodystrophic laminopathy / Orphanet_280365
Mandibuloacral dysplasia with type A lipodystrophy / Orphanet_90153
Atypical Werner syndrome / Orphanet_79474
Autosomal recessive Emery-Dreifuss muscular dystrophy / Orphanet_98855
Autosomal dominant Emery-Dreifuss muscular dystrophy / Orphanet_98853
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation / Orphanet_300751
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form / Orphanet_293910
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form / Orphanet_293899
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form / Orphanet_293888
Familial isolated dilated cardiomyopathy / Orphanet_154

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC
abnormal optic disk morphology / IMPC
short tibia / IMPC
cornea ulcer / IMPC
abnormal cornea morphology / IMPC
improved glucose tolerance / IMPC

MGI phenotypes (gene matching)

prominent ears / MGI
abnormal middle ear morphology / MGI
decreased bone mineral density / MGI
osteoporosis / MGI
kyphoscoliosis / MGI
abnormal neurocranium morphology / MGI
short maxilla / MGI
malocclusion / MGI
abnormal trabecular bone morphology / MGI
decreased compact bone thickness / MGI
abnormal scapula morphology / MGI
abnormal rib morphology / MGI
kyphosis / MGI
hypoglycemia / MGI
abnormal heart morphology / MGI
abnormal heart development / MGI
enlarged heart / MGI
abnormal myocardial fiber morphology / MGI
abnormal hair follicle morphology / MGI
alopecia / MGI
sparse hair / MGI
abnormal cranium morphology / MGI
short snout / MGI
mandible hypoplasia / MGI
abnormal esophageal squamous epithelium morphology / MGI
abnormal colon morphology / MGI
small spleen / MGI
small thymus / MGI
abnormal muscle development / MGI
muscle weakness / MGI
progressive muscle weakness / MGI
muscle degeneration / MGI
dystrophic muscle / MGI
abnormal tongue morphology / MGI
abnormal myelination / MGI
abnormal cholinergic neuron morphology / MGI
abnormal enteric neuron morphology / MGI
small gonad / MGI
small testis / MGI
small seminiferous tubules / MGI
flaky skin / MGI
abnormal epidermal layer morphology / MGI
thick epidermis / MGI
epidermal hyperplasia / MGI
abnormal epidermis stratum basale morphology / MGI
abnormal epidermis stratum granulosum morphology / MGI
hyperkeratosis / MGI
thin dermal layer / MGI
decreased body height / MGI
decreased body weight / MGI
weight loss / MGI
decreased body size / MGI
hypoactivity / MGI
impaired coordination / MGI
abnormal gait / MGI
abnormal suckling behavior / MGI
poor grooming / MGI
hunched posture / MGI
disheveled coat / MGI
increased circulating phosphate level / MGI
cardiac hypertrophy / MGI
postnatal growth retardation / MGI
decreased white adipose tissue amount / MGI
increased susceptibility to otitis media / MGI
reduced female fertility / MGI
infertility / MGI
male infertility / MGI
abnormal meiosis / MGI
abnormal skin morphology / MGI
abnormal coat/hair pigmentation / MGI
increased circulating insulin level / MGI
premature death / MGI
abnormal ear morphology / MGI
abnormal tail morphology / MGI
abnormal axial skeleton morphology / MGI
abnormal reproductive system morphology / MGI
no abnormal phenotype detected / MGI
small heart / MGI
abnormal nasopharynx morphology / MGI
muscular atrophy / MGI
abnormal diaphragm morphology / MGI
increased circulating ketone body level / MGI
micrognathia / MGI
decreased circulating triglyceride level / MGI
abnormal sciatic nerve morphology / MGI
thin myocardium / MGI
abnormal keratinocyte morphology / MGI
decreased circulating insulin level / MGI
exophthalmos / MGI
dilated heart left ventricle / MGI
dilated heart right ventricle / MGI
dilated cardiomyopathy / MGI
decreased heart weight / MGI
abnormal cranial suture morphology / MGI
abnormal bone mineralization / MGI
increased circulating alkaline phosphatase level / MGI
abnormal cell cycle / MGI
abnormal soleus morphology / MGI
abnormal gastrocnemius morphology / MGI
abnormal tibialis anterior morphology / MGI
abnormal cell nucleus morphology / MGI
abnormal impulse conducting system conduction / MGI
dilated heart atrium / MGI
cardiac fibrosis / MGI
abnormal esophageal smooth muscle morphology / MGI
abnormal auditory tube / MGI
abnormal hypaxial muscle morphology / MGI
pulmonary hypertension / MGI
nervous system phenotype / MGI
thymus atrophy / MGI
abnormal hard palate morphology / MGI
premature aging / MGI
abnormal bone structure / MGI
vascular smooth muscle hypoplasia / MGI
pulmonary edema / MGI
abnormal coronal suture morphology / MGI
abnormal lambdoid suture morphology / MGI
abnormal sagittal suture morphology / MGI
abnormal ear physiology / MGI
prolonged PR interval / MGI
decreased heart left ventricle weight / MGI
abnormal heart left ventricle morphology / MGI
abnormal ear development / MGI
decreased circulating carnitine level / MGI
aneuploidy / MGI
abnormal mitosis / MGI
prolonged P wave / MGI
abnormal sarcomere morphology / MGI
abnormal zygomatic arch morphology / MGI
dilated esophagus / MGI
small myocardial fiber / MGI
myocardial fiber degeneration / MGI
decreased myocardial fiber number / MGI
rib fractures / MGI
small xiphoid process / MGI
abnormal distortion product otoacoustic emission / MGI
increased adiponectin level / MGI
abnormal behavior / MGI
abnormal cell differentiation / MGI
increased circulating growth hormone level / MGI
decreased cardiac muscle contractility / MGI
bradykinesia / MGI
azoospermia / MGI
abnormal female meiosis / MGI
increased triglyceride level / MGI
insulin resistance / MGI
decreased heart rate / MGI
small cranium / MGI
abnormal incisor morphology / MGI
muscle phenotype / MGI
liver/biliary system phenotype / MGI
limbs/digits/tail phenotype / MGI
adipose tissue phenotype / MGI
homeostasis/metabolism phenotype / MGI
growth/size/body region phenotype / MGI
craniofacial phenotype / MGI
behavior/neurological phenotype / MGI
reproductive system phenotype / MGI
skeleton phenotype / MGI
abnormal axon morphology / MGI
tachypnea / MGI
decreased percent body fat/body weight / MGI
abnormal skeleton morphology / MGI
decreased circulating glucose level / MGI
abnormal vascular smooth muscle physiology / MGI
decreased ventricle muscle contractility / MGI
cardiac interstitial fibrosis / MGI
abnormal cell physiology / MGI
decreased circulating leptin level / MGI
abnormal tympanic membrane morphology / MGI
myocardial necrosis / MGI
congestive heart failure / MGI
ocular hypotelorism / MGI
shallow orbits / MGI
impaired hearing / MGI
abnormal DNA replication / MGI
abnormal peritoneal macrophage morphology / MGI
arrest of male meiosis / MGI
slow postnatal weight gain / MGI
decreased cranium height / MGI
decreased cranium width / MGI
enlarged heart atrium / MGI
decreased survivor rate / MGI
absent subcutaneous adipose tissue / MGI
decreased subcutaneous adipose tissue amount / MGI
decreased abdominal adipose tissue amount / MGI
abnormal hair cycle anagen phase / MGI
abnormal nuclear lamina morphology / MGI
meteorism / MGI
abnormal epidermal melanocyte morphology / MGI
decreased skeletal muscle fiber size / MGI
decreased skeletal muscle fiber diameter / MGI
centrally nucleated skeletal muscle fibers / MGI
skeletal muscle degeneration / MGI
cardiac muscle degeneration / MGI
skeletal muscle fibrosis / MGI
abnormal chromosomal synapsis / MGI
distended cecum / MGI
abnormal interstitial cell of Cajal morphology / MGI
abnormal blood homeostasis / MGI
abnormal urine homeostasis / MGI
orthokeratosis / MGI
abnormal mitotic spindle assembly checkpoint / MGI
abnormal aorta smooth muscle morphology / MGI
abnormal aorta tunica adventitia morphology / MGI
decreased total body fat amount / MGI
abnormal cranium size / MGI
abnormal frontonasal suture morphology / MGI
decreased grip strength / MGI
increased circulating creatine kinase level / MGI
decreased bone mineral content / MGI
rough coat / MGI
decreased quadriceps weight / MGI
prolonged QRS complex duration / MGI
decreased liver glycogen level / MGI
prolonged RR interval / MGI
sinoatrial block / MGI
calcified aorta / MGI
calcified thoracic aorta / MGI
calcified aortic arch / MGI
mortality/aging / MGI
decreased bone trabecula number / MGI
decreased bone volume / MGI
abnormal double-strand DNA break repair / MGI
abnormal mitochondrial ATP synthesis coupled electron transport / MGI
decreased core body temperature / MGI
postnatal lethality, complete penetrance / MGI
abnormal fat cell differentiation / MGI
esophageal achalasia / MGI
decreased fibroblast proliferation / MGI
abnormal heart echocardiography feature / MGI
increased or absent threshold for auditory brainstem response / MGI
decreased sebaceous gland number / MGI
sebaceous gland hypoplasia / MGI
decreased circulating lactate level / MGI
decreased eccrine gland number / MGI
short ears / MGI
decreased bone mineralization / MGI
wide cranial sutures / MGI
small lower incisors / MGI
short upper incisors / MGI
abnormal auditory bulla morphology / MGI
tympanic membrane retraction / 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.

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
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)
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-Atm1Brd Lmnatm1a(EUCOMM)Wtsi/IcsOrl