Myo5a^d-2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Myo5a^d-2Btlr
• Name: myosin VA; dilute 2 Bruce Beutler
• MGI ID: MGI:3777923
• Synonyms: nut
• Gene: Myo5a Location: Chr9:74978297-75130970 bp, + strand Genetic Position: Chr9, 42.26 cM
• Alliance: Myo5a^d-2Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is a G-to-A transition in the donor splice site of intron 9 (position 72979 in the Genbank genomic region NC_000075). The mutation weakens the donor splice site, which results in skipping of exon 9 (of 41 total exons) in a proportion of transcripts; this was verified by cDNA sequence analysis. Loss of exon 9 shifts the reading frame, resulting in incorporation of incorrect amino acids after position 151 of the protein, and creates a premature stop codon that would terminate the protein after amino acid 325, in the head region. (J:133118)
• Inheritance: Recessive

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 Myo5a Mutation: 265 strains or lines available

References

• Original: J:133118 Eidenschenk C, et al., Nut, a second ENU-induced Myo5a mutation conferring dilute coat color and black eyes. MGI Direct Data Submission. 2008
• All: 1 reference(s)