STOCK Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*E134K)1Tlbt/H

Status

Available to order

EMMA IDEM:02397
International strain nameSTOCK Grm7Tg(SMN2)89Ahmb Smn1tm1Msd Tg(SMN1*E134K)1Tlbt/H
Alternative nameSMN2 low/SMN E134K
Strain typeTransgenic Strains
Allele/Transgene symbolGrm7Tg(SMN2)89Ahmb,
Gene/Transgene symbolGrm7

Information from provider

ProviderNicholas Parkinson
Provider affiliationUniversity of Oxford
Genetic informationThis line expresses the human SMNE134K mutation behind the SMN 3.4 kb endogenous promoter. This transgene has been bred as a homozygote onto the SMN2 low line (see Monani et.al., Hum Mol Genet 9 3 2000) which contains a knockout allele of the endogenous Smn locus and is homozygous for the human SMN2 BAC transgenic.
Phenotypic informationMice that are homozygous transgenic for SMN2 and SMNE134K and heterozygous or wild-type for the Smn knockout allele have no phenotype. Mice that are homozygous transgenic for SMN2 and SMNE134K and homozygous deleted for the Smn knockout allele die at approximately P0.
References
  • The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.;Monani U R, Sendtner M, Coovert D D, Parsons D W, Andreassi C, Le T T, Jablonka S, Schrank B, Rossoll W, Prior T W, Morris G E, Burghes A H, ;2000;Human molecular genetics;9;333-9; 10655541

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • hypoactivity / MGI
  • decreased vertical activity / MGI
  • nervous system phenotype / MGI
  • decreased grip strength / MGI
  • abnormal apoptosis / MGI
  • abnormal embryonic tissue morphology / MGI
  • absent blastocoele / MGI
  • embryonic growth retardation / MGI
  • embryonic lethality before implantation, complete penetrance / MGI
  • decreased motor neuron number / MGI
  • decreased body size / MGI
  • abnormal gait / MGI
  • premature death / MGI
  • abnormal spine curvature / MGI
  • paraparesis / MGI

Literature references

  • The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.;Monani U R, Sendtner M, Coovert D D, Parsons D W, Andreassi C, Le T T, Jablonka S, Schrank B, Rossoll W, Prior T W, Morris G E, Burghes A H, ;2000;Human molecular genetics;9;333-9; 10655541

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*

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

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
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