Myo5a^d-n2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Myo5a^d-n2Btlr
• Name: myosin VA; dilute neurological 2 Bruce Beutler
• MGI ID: MGI:3777941
• Synonyms: silver decerebrate 2
• Gene: Myo5a Location: Chr9:74978297-75130970 bp, + strand Genetic Position: Chr9, 42.26 cM
• Alliance: Myo5a^d-n2Btlr 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 C-to-T transition at nucleotide position 5255 (Genbank Accession NM_010864), in exon 37 of 41 total exons, that changes the codon for glutamine 1610 to a stop codon (p.Q1610*). The protein lacks the C-terminal 243 amino acids, which encode part of the globular tail domain (GTD). (J:133120)
• 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:133120 Moresco EM, et al., Silver decerebrate 2, a second ENU-induced Myo5a mutation conferring coat pigmentation and behavioral defects. MGI Direct Data Submission. 2008
• All: 1 reference(s)