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Phenotypes Associated with This Genotype
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Egr2tm1Jmi mutation (0 available); any Egr2 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Runted phenotype and hindbrain defect of Egr2tm1Jmi/Egr2tm1Jmi mice

• 40% die within the first week of life, the remaining homozygotes survive into the third week of life

• severe tremors are seen


nervous system
• increased numbers of proliferating Schwann cells are seen at P14
• at E10.5, in 14% of mutants both rhombomeres 3 and 5 are absent, in 57% fusion of cranial nerves V, VII, and VIII is seen, and in 29% fusion of cranial nerves IX and X is seen
• an abundance of undifferentiated Schwann cells are seen associated with individual axons of the sciatic nerve (J:96641)
• at postnatal day 14 increased proliferation of Schwann cells is seen with 11.3 +/- 1.9% of the nuclei BrdU+ compared to less than 0.9% in wild-type mice (J:99824)
• at P14 the sciatic nerve is thin and translucent
• the number of large and medium claiber axons is normal but, most lack myelin
• myelination is absent; however, no signs of demyelination are seen (J:96641)

• increased numbers of proliferating Schwann cells are seen at P14

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Charcot-Marie-Tooth disease type 4E DOID:0110195 OMIM:605253

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.19
The Jackson Laboratory