- 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
B6.129-Gphntm1Jrs/Cnrm
Status | Available to order |
EMMA ID | EM:00716 |
International strain name | B6.129-Gphntm1Jrs/Cnrm |
Alternative name | KOGeph |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Gphntm1Jrs, |
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 Exon 1 of this gene has been replaced by a reverse oriented neo-cassette that ablates its expression.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 |
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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)
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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