Eml1^tvrm360
Chemically induced Allele Detail

Summary

• Symbol: Eml1^tvrm360
• Name: echinoderm microtubule associated protein like 1; translational vision research model 360
• MGI ID: MGI:6690860
• Synonyms: tvrm360
• Gene: Eml1 Location: Chr12:108337265-108505835 bp, + strand Genetic Position: Chr12, 59.46 cM
• Alliance: Eml1^tvrm360 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: This ENU-induced T-to-A transversion in exon 18 changes tyrosine codon 652 (TAT) to a stop codon (TAA) (p.Tyr652*). This premature stop codon leads to the truncation of much of the C-terminal propeller domain in the encoded peptide. RT-qPCR of retina shows a significant decrease in the short splice variants, but the long splice variant does not appear to undergo nonsense mediated decay. (J:297748)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 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:297748 Collin GB, et al., Disruption in murine Eml1 perturbs retinal lamination during early development. Sci Rep. 2020 Mar 27;10(1):5647
• All: 2 reference(s)