Myo5a^d-n
Spontaneous Allele Detail

Summary

• Symbol: Myo5a^d-n
• Name: myosin VA; dilute neurological
• MGI ID: MGI:1856008
• Gene: Myo5a Location: Chr9:74978297-75130970 bp, + strand Genetic Position: Chr9, 42.26 cM
• Alliance: Myo5a^d-n page

Mutation origin

• Strain of Origin: B10.D2-H2^d/nSnJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: Genomic sequence analysis showed this mutation results from a c.5518C>T transition that introduces a premature stop codon at glutamine 1840 (p.Q1840*). mRNA levels are not significantly affected; however protein levels are dramatically reduced. (J:47547)
• Inheritance: Recessive

Disease models

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Myo5a Mutation: 266 strains or lines available

Notes

Myo5a^d-n, dilute-neurological, recessive. This mutation arose in the B10.D2/nSnJ congenic strain (J:16313). Homozygotes display a neuromuscular disorder, but the condition is less severe than in Myo5a^d-l homozygotes (M.T. Davisson, 1996, personal communication).

References

• Original: J:16313 Sweet HO, Remutations at The Jackson Laboratory. Mouse Genome. 1993;91(4):862-65
• All: 3 reference(s)