C57BL/6N-Shh^{tm1a(EUCOMM)Wtsi}/H

Status	Available to order
EMMA ID	EM:07782
Citation information	RRID:IMSR_EM:07782 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-Shh^{tm1a(EUCOMM)Wtsi}/H
Alternative name	EPD0339_3_A12
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Shh^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Shh
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 EPD0339_3_A12. 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	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Alobar holoprosencephaly / Orphanet_93925
Triphalangeal thumb-polysyndactyly syndrome / Orphanet_2950
Midline interhemispheric variant of holoprosencephaly / Orphanet_93926
Colobomatous microphthalmia / Orphanet_98938
Polydactyly of a triphalangeal thumb / Orphanet_93336
Syndactyly type 4 / Orphanet_93405
Hypoplastic tibiae-postaxial polydactyly syndrome / Orphanet_3332
Lobar holoprosencephaly / Orphanet_93924
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome / Orphanet_476119
Microform holoprosencephaly / Orphanet_280200
Septopreoptic holoprosencephaly / Orphanet_280195
Radial hemimelia / Orphanet_93321
Semilobar holoprosencephaly / Orphanet_220386
Holoprosencephaly / Orphanet_2162
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome / Orphanet_988

IMPC phenotypes (gene matching)

increased total body fat amount / IMPC
decreased lean body mass / IMPC
limb grasping / IMPC
decreased bone mineral content / IMPC
preweaning lethality, complete penetrance / IMPC
increased startle reflex / IMPC
impaired glucose tolerance / IMPC
increased circulating HDL cholesterol level / IMPC

MGI phenotypes (gene matching)

absent scala media / MGI
absent endolymphatic duct / MGI
abnormal neurocranium morphology / MGI
abnormal frontal bone morphology / MGI
abnormal vertebrae morphology / MGI
absent vertebrae / MGI
abnormal rib morphology / MGI
abnormal cartilage morphology / MGI
abnormal cartilage development / MGI
abnormal heart morphology / MGI
abnormal hair follicle morphology / MGI
absent hair follicles / MGI
abnormal hair follicle orientation / MGI
absent hair follicle inner root sheath / MGI
alopecia / MGI
abnormal craniofacial morphology / MGI
microcephaly / MGI
abnormal cranium morphology / MGI
absent mouth / MGI
abnormal maxilla morphology / MGI
abnormal digestive system morphology / MGI
abnormal esophagus morphology / MGI
abnormal stomach glandular epithelium morphology / MGI
abnormal foregut morphology / MGI
abnormal pulmonary artery morphology / MGI
abnormal colon morphology / MGI
abnormal small intestine morphology / MGI
short limbs / MGI
absent forelimb / MGI
abnormal hindlimb morphology / MGI
absent hindlimb / MGI
adactyly / MGI
polydactyly / MGI
syndactyly / MGI
oligodactyly / MGI
abnormal autopod morphology / MGI
abnormal liver development / MGI
abnormal smooth muscle morphology / MGI
decreased brain size / MGI
abnormal forebrain morphology / MGI
abnormal telencephalon morphology / MGI
cerebellum hypoplasia / MGI
abnormal cerebellum external granule cell layer morphology / MGI
absent floor plate / MGI
absent notochord / MGI
abnormal motor neuron morphology / MGI
decreased motor neuron number / MGI
decreased spinal cord size / MGI
abnormal enteric neuron morphology / MGI
abnormal lung morphology / MGI
abnormal lung development / MGI
pulmonary hypoplasia / MGI
thick epidermis / MGI
epidermal hyperplasia / MGI
abnormal dermal layer morphology / MGI
decreased body weight / MGI
anophthalmia / MGI
microphthalmia / MGI
abnormal vasculogenesis / MGI
abnormal embryo development / MGI
abnormal somite shape / MGI
abnormal embryo size / MGI
decreased embryo size / MGI
abnormal dorsal-ventral axis patterning / MGI
perinatal lethality / MGI
abnormal eye morphology / MGI
abnormal ear morphology / MGI
abnormal limb morphology / MGI
abnormal axial skeleton morphology / MGI
abnormal limb bone morphology / MGI
abnormal craniofacial bone morphology / MGI
abnormal cardiovascular system morphology / MGI
abnormal respiratory system morphology / MGI
abnormal kidney morphology / MGI
abnormal neural tube morphology / MGI
no abnormal phenotype detected / MGI
decreased brain weight / MGI
abnormal pharynx morphology / MGI
abnormal bronchus morphology / MGI
abnormal tracheal smooth muscle morphology / MGI
brachyphalangia / MGI
brachydactyly / MGI
small stomach / MGI
absent tibia / MGI
small olfactory bulb / MGI
short tibia / MGI
short fibula / MGI
abnormal posterior semicircular canal morphology / MGI
absent cartilage / MGI
abnormal joint morphology / MGI
no phenotypic analysis / MGI
abnormal superior semicircular canal morphology / MGI
abnormal tracheal cartilage morphology / MGI
anal atresia / MGI
absent lateral semicircular canal / MGI
fused joints / MGI
abnormal duodenum morphology / MGI
abnormal digestive organ placement / MGI
tracheoesophageal fistula / MGI
decreased rib number / MGI
abnormal optic vesicle formation / MGI
nervous system phenotype / MGI
abnormal nervous system morphology / MGI
abnormal hair follicle development / MGI
abnormal long bone morphology / MGI
abnormal submandibular gland morphology / MGI
abnormal hair shaft morphology / MGI
abnormal forelimb zeugopod morphology / MGI
abnormal hindlimb zeugopod morphology / MGI
abnormal heart left atrium morphology / MGI
embryonic growth retardation / MGI
abnormal lung vasculature morphology / MGI
abnormal spinal cord interneuron morphology / MGI
abnormal prenatal growth/weight/body size / MGI
decreased fetal size / MGI
fetal growth retardation / MGI
abnormal optic stalk morphology / MGI
abnormal optic cup morphology / MGI
abnormal embryonic/fetal subventricular zone morphology / MGI
abnormal postnatal subventricular zone morphology / MGI
absent vestibulocochlear ganglion / MGI
absent vestibular saccule / MGI
bowed tibia / MGI
absent utricle / MGI
bowed fibula / MGI
abnormal respiratory conducting tube morphology / MGI
occipital bone foramen / MGI
absent tracheal cartilage rings / MGI
cervical vertebral fusion / MGI
short metacarpal bones / MGI
notochord degeneration / MGI
abnormal gallbladder morphology / MGI
holoprosencephaly / MGI
cyclopia / MGI
gastric metaplasia / MGI
abnormal humerus morphology / MGI
abnormal phalanx morphology / MGI
limbs/digits/tail phenotype / MGI
homeostasis/metabolism phenotype / MGI
embryo phenotype / MGI
behavior/neurological phenotype / MGI
absent fibula / MGI
stomach epithelial hyperplasia / MGI
abnormal skeleton morphology / MGI
abnormal vascular smooth muscle morphology / MGI
abnormal cell physiology / MGI
abnormal otic vesicle development / MGI
increased apoptosis / MGI
annular pancreas / MGI
abnormal limb development / MGI
abnormal nasal pit morphology / MGI
slow postnatal weight gain / MGI
hemimelia / MGI
absent external male genitalia / MGI
absent external female genitalia / MGI
abnormal cystic duct morphology / MGI
abnormal dermis papillary layer morphology / MGI
acephaly / MGI
decreased keratinocyte proliferation / MGI
abnormal atrium myocardium morphology / MGI
absent pulmonary vein / MGI
fusion of atlas and odontoid process / MGI
abnormal lung saccule morphology / MGI
impaired lung lobe morphogenesis / MGI
abnormal branching involved in lung morphogenesis / MGI
impaired branching involved in bronchus morphogenesis / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, complete penetrance / MGI
perinatal lethality, complete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
decreased somite size / MGI
decreased midbrain size / MGI
absent diencephalon / MGI
decreased chondrocyte proliferation / MGI
abnormal chondrocyte differentiation / MGI
abnormal gallbladder size / MGI
thin interparietal bone / MGI

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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-Shhtm1a(EUCOMM)Wtsi/H