Eml1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Eml1^m1Btlr
• Name: echinoderm microtubule associated protein like 1; mutation 1, bruce Beutler
• MGI ID: MGI:6286305
• Synonyms: bubble
• Gene: Eml1 Location: Chr12:108337265-108505835 bp, + strand Genetic Position: Chr12, 59.46 cM
• Alliance: Eml1^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced G to A transition at base pair 108,513,071 (v38) on chromosome 12, or base pair 142,070 in the GenBank genomic region NC_000078 within the splice donor site of intron 10. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 96-base pair exon 10. The mutation would cause an in-frame deletion of 32 amino acids beginning after amino acid 335 of the protein, which is normally 814 amino acids long. (J:272865)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

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

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3643

References

• Original: J:272865 Prince L, et al., Mutagenetix entry for bubble. MGI Direct Data Submission. 2019
• All: 1 reference(s)