B6.129-Gphn^tm1Jrs/Cnrm

Status	Available to order
EMMA ID	EM:00716
Citation information	RRID:IMSR_EM:00716 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	B6.129-Gphn^tm1Jrs/Cnrm
Alternative name	KOGeph
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Gphn^tm1Jrs
Gene/Transgene symbol	Gphn

Information from provider

Provider	Heinrich Betz
Provider affiliation	Max Planck Institute fuer Biophysikalische Chemie
Genetic information	Gephyrin 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 Exon 1 of this gene has been replaced by a reverse oriented neo-cassette that ablates its expression.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 information	Homozygotes 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 centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Hereditary hyperekplexia / Orphanet_3197
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C / Orphanet_308400

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

MGI phenotypes (gene matching)

abnormal motor neuron morphology / MGI
motor neuron degeneration / MGI
decreased motor neuron number / MGI
abnormal neuromuscular synapse morphology / MGI
hyperresponsive / MGI
abnormal suckling behavior / MGI
abnormal posture / MGI
abnormal vocalization / MGI
apnea / MGI
no abnormal phenotype detected / MGI
abnormal nervous system electrophysiology / MGI
abnormal axon extension / MGI
abnormal retinal inner plexiform layer morphology / MGI
increased motor neuron number / 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^*

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Legally binding conditions for the transfer

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B6.129-Gphntm1Jrs/Cnrm