- abnormal mandible morphology / MGI
- tremors / MGI
- weakness / MGI
- paralysis / MGI
- hindlimb paralysis / MGI
- abnormal myelination / MGI
- abnormal rhombomere morphology / MGI
- abnormal motor neuron morphology / MGI
- abnormal spinal cord morphology / MGI
- abnormal neuromuscular synapse morphology / MGI
- abnormal cranial nerve morphology / MGI
- abnormal trigeminal nerve morphology / MGI
- abnormal abducens nerve morphology / MGI
- abnormal facial nerve morphology / MGI
- abnormal glossopharyngeal nerve morphology / MGI
- abnormal vagus nerve morphology / MGI
- abnormal cranial ganglia morphology / MGI
- abnormal geniculate ganglion morphology / MGI
- abnormal trigeminal ganglion morphology / MGI
- abnormal glossopharyngeal ganglion morphology / MGI
- abnormal vagus ganglion morphology / MGI
- abnormal Schwann cell morphology / MGI
- decreased body weight / MGI
- weight loss / MGI
- decreased body size / MGI
- delayed eyelid opening / MGI
- hypoactivity / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- impaired limb coordination / MGI
- postnatal growth retardation / MGI
- respiratory distress / MGI
- abnormal motor capabilities/coordination/movement / MGI
- abnormal skeleton development / MGI
- abnormal neural tube morphology / MGI
- abnormal sciatic nerve morphology / MGI
- abnormal aortic valve morphology / MGI
- abnormal somatic nervous system morphology / MGI
- short tibia / MGI
- abnormal cochlear ganglion morphology / MGI
- abnormal bone mineralization / MGI
- no phenotypic analysis / MGI
- abnormal long bone epiphyseal plate morphology / MGI
- short femur / MGI
- decreased width of hypertrophic chondrocyte zone / MGI
- abnormal long bone morphology / MGI
- abnormal bone structure / MGI
- short radius / MGI
- fusion of glossopharyngeal and vagus nerve / MGI
- decreased length of long bones / MGI
- increased pulmonary respiratory rate / MGI
- abnormal neuronal migration / MGI
- abnormal hindbrain development / MGI
- decreased diameter of long bones / MGI
- decreased diameter of femur / MGI
- decreased diameter of radius / MGI
- decreased diameter of tibia / MGI
- decreased nerve conduction velocity / MGI
- enlarged aortic valve / MGI
- thick aortic valve cusps / MGI
- thick pulmonary valve cusps / MGI
- integument phenotype / MGI
- lethality at weaning, complete penetrance / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- increased Schwann cell proliferation / MGI
- decreased rhombomere 3 size / MGI
- absent rhombomere 3 / MGI
- decreased rhombomere 5 size / MGI
- absent rhombomere 5 / MGI
- decreased rhombomere 6 size / MGI
STOCK Egr2tm4Pch/Orl
| Status | Available to order |
| EMMA ID | EM:11834 |
| Citation information | RRID:IMSR_EM:11834 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 | STOCK Egr2tm4Pch/Orl |
| Alternative name | Krox20 I268F neo |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Egr2tm4Pch |
| Gene/Transgene symbol | Egr2 |
Information from provider
| Provider | Carole Desmarquet-Trin-Dinh |
| Provider affiliation | Equipe Developpement du Systeme Nerveux IBENS, INSERM U 1024, CNRS UMR 8197, Ecole Normale Superieure |
| Genetic information | Point mutation I268F in Krox20/Egr2 gene. |
| Phenotypic information | Homozygous:Die within 20 days post natal, tremor, paralysis of the lower and upper limbs with respiratory problems.Heterozygous:Nothing to report |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | yes |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNRS-TAAM – Typing and Archiving of Animal Models, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6 males, wild-type C57BL/6 females |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Dejerine-Sottas syndrome / Orphanet_64748
- Charcot-Marie-Tooth disease type 1D / Orphanet_101084
- Charcot-Marie-Tooth disease type 4E / Orphanet_99951
MGI phenotypes (gene matching)
Literature references
- Disruption of Krox20-Nab interaction in the mouse leads to peripheral neuropathy with biphasic evolution.;Desmazières Anne, Decker Laurence, Vallat Jean-Michel, Charnay Patrick, Gilardi-Hebenstreit Pascale, ;2008;The Journal of neuroscience : the official journal of the Society for Neuroscience;28;5891-900; 18524893
Information on how we integrate external resources can be found here
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