B6.129-Gphntm1Jrs/Cnrm

Status

Available to order

EMMA IDEM:00716
International strain nameB6.129-Gphntm1Jrs/Cnrm
Alternative nameKOGeph
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolGphntm1Jrs,
Gene/Transgene symbolGphn

Information from provider

ProviderHeinrich Betz
Provider affiliationMax Planck Institute fuer Biophysikalische Chemie
Genetic informationGephyrin is a protein involved in the clustering/aggregation of inhibitory receptors. Exon 1 of this gene has been replaced by a reverse oriented neo-cassette that ablates its expression.
Phenotypic informationHomozygotes die within 1 day after birth. Pups fail to suckle and display a rigid hyperextended posture due to a lack of inhibitory control of the musculature. Animals are also defective in molybdoenzyme activity. Model of hyperekplexia (startle disease or stiff baby syndrome).
References
  • Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.;Feng G, Tintrup H, Kirsch J, Nichol M C, Kuhse J, Betz H, Sanes J R, ;1998;Science (New York, N.Y.);282;1321-4; 9812897
  • Gephyrin-independent clustering of postsynaptic GABA(A) receptor subtypes.;Kneussel M, Brandstätter J H, Gasnier B, Feng G, Sanes J R, Betz H, ;2001;Molecular and cellular neurosciences;17;973-82; 11414787
  • Loss of postsynaptic GABA(A) receptor clustering in gephyrin-deficient mice.;Kneussel M, Brandstätter J H, Laube B, Stahl S, Müller U, Betz H, ;1999;The Journal of neuroscience : the official journal of the Society for Neuroscience;19;9289-97; 10531433
  • Reduced synaptic clustering of GABA and glycine receptors in the retina of the gephyrin null mutant mouse.;Fischer F, Kneussel M, Tintrup H, Haverkamp S, Rauen T, Betz H, Wässle H, ;2000;The Journal of comparative neurology;427;634-48; 11056469

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • abnormal motor neuron morphology / MGI
  • motor neuron degeneration / MGI
  • decreased motor neuron number / MGI
  • abnormal neuromuscular synapse morphology / MGI
  • abnormal nervous system electrophysiology / MGI
  • abnormal axon extension / MGI
  • abnormal retinal inner plexiform layer morphology / MGI
  • increased motor neuron number / MGI
  • hyperresponsive / MGI
  • abnormal suckling behavior / MGI
  • abnormal posture / MGI
  • abnormal vocalization / MGI
  • apnea / MGI
  • neonatal lethality, complete penetrance / MGI

Literature references

  • Dual requirement for gephyrin in glycine receptor clustering and molybdoenzyme activity.;Feng G, Tintrup H, Kirsch J, Nichol M C, Kuhse J, Betz H, Sanes J R, ;1998;Science (New York, N.Y.);282;1321-4; 9812897
  • Gephyrin-independent clustering of postsynaptic GABA(A) receptor subtypes.;Kneussel M, Brandstätter J H, Gasnier B, Feng G, Sanes J R, Betz H, ;2001;Molecular and cellular neurosciences;17;973-82; 11414787
  • Loss of postsynaptic GABA(A) receptor clustering in gephyrin-deficient mice.;Kneussel M, Brandstätter J H, Laube B, Stahl S, Müller U, Betz H, ;1999;The Journal of neuroscience : the official journal of the Society for Neuroscience;19;9289-97; 10531433
  • Reduced synaptic clustering of GABA and glycine receptors in the retina of the gephyrin null mutant mouse.;Fischer F, Kneussel M, Tintrup H, Haverkamp S, Rauen T, Betz H, Wässle H, ;2000;The Journal of comparative neurology;427;634-48; 11056469

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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 embryos. 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
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Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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