Eml1^heco
Spontaneous Allele Detail

Summary

• Symbol: Eml1^heco
• Name: echinoderm microtubule associated protein like 1; heterotopic cortex
• MGI ID: MGI:5560734
• Synonyms: HeCo
• Gene: Eml1 Location: Chr12:108337265-108505835 bp, + strand Genetic Position: Chr12, 59.46 cM
• Alliance: Eml1^heco page

Mutation origin

• Strain of Origin: CD1 and NOR

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Transposon insertion
• Mutation details: A 5.5 kb early retrotransposon element insertion flanked by a 6-bp direct repeat is found in intron 22. This results in skipping of exon 22 or exons 21 and 22 and the production of a truncated transcript. Full length wild-type transcripts are not detected in brains of homozygous mice. (J:211342)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	16 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Eml1 Mutation: 45 strains or lines available

References

• Original: J:208031 Croquelois A, et al., Characterization of the HeCo mutant mouse: a new model of subcortical band heterotopia associated with seizures and behavioral deficits. Cereb Cortex. 2009 Mar;19(3):563-75
• All: 5 reference(s)