Myo5a^d-nBtlr
Chemically induced Allele Detail

Summary

• Symbol: Myo5a^d-nBtlr
• Name: myosin VA; dilute neurological Bruce Beutler
• MGI ID: MGI:3777927
• Synonyms: silver decerebrate
• Gene: Myo5a Location: Chr9:74978297-75130970 bp, + strand Genetic Position: Chr9, 42.26 cM
• Alliance: Myo5a^d-nBtlr 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-T transversion at nucleotide position 2505 (Genbank Accession NM_010864), in exon 17 of 41 total exons, resulting in the replacement of serine by isoleucine at position 693 (p.S693I) in the tail domain, near the C-terminal end of the head domain (aa 1-887) of the protein. (J:133119)
• Inheritance: Recessive

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Myo5a Mutation: 265 strains or lines available

References

• Original: J:133119 Rutschmann S, et al., Silver decerebrate, an ENU-induced Myo5a mutation conferring coat pigmentation and behavioral defects. MGI Direct Data Submission. 2008
• All: 1 reference(s)