- 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.Cg-Gphntm1Jrs Tg(ACTB-At5g20990)17Betz/Cnrm
Status | Available to order |
EMMA ID | EM:00316 |
Citation information | RRID:IMSR_EM:00316 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.Cg-Gphntm1Jrs Tg(ACTB-At5g20990)17Betz/Cnrm |
Alternative name | Cnx1tg17 |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Gphntm1Jrs, Tg(ACTB-At5g20990)17Betz |
Gene/Transgene symbol | Gphn, Tg(ACTB-At5g20990)17Betz |
Information from provider
Provider | Heinrich Betz |
Provider affiliation | Max Planck Institute fuer Biophysikalische Chemie |
Genetic information | The Cnx1 (At5g20990)-espressing transgenic strains were initially generated by crossing the founders with B6D2F2. Subsequently, strains from founders 12 and 17 were crossed with heterozygous gephyrin +/- mice, which had also been maintained on a B6D2F6 background. Subsequently, both the Cnx1 n. 12 and n. 17 strains have been crossed with gephyrin +/- mice, which have been maintained on a B6 background. |
Phenotypic information | CNX1/At5g20990 is the Arabidopsis thaliana plant ortholog of gephyrin, a protein which is involved the clustering/aggregation of inhibitory receptors. Cnx1-expressing transgenic strains were used to assess whether its expression would rescue the lethality of gephyrin knock-out mice. |
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)
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
- Rescue of molybdenum cofactor biosynthesis in gephyrin-deficient mice by a Cnx1 transgene.;Grosskreutz Yannick, Betz Heinrich, Kneussel Matthias, ;2003;Biochemical and biophysical research communications;301;450-5; 12565882
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