- 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 |
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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