Map1a^m1J
Spontaneous Allele Detail

Summary

• Symbol: Map1a^m1J
• Name: microtubule-associated protein 1 A; mutation 1, Jackson
• MGI ID: MGI:5774956
• Synonyms: nm2719
• Gene: Map1a Location: Chr2:121120081-121141313 bp, + strand Genetic Position: Chr2, 60.37 cM
• Alliance: Map1a^m1J page

Mutation origin

• Strain of Origin: C57BLKS/J-Npc1^spm/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A spontaneous mutation results in a 8 bp deletion and 1 bp insertion. This mutation results in a frame shift, deleting 297 amino acids from the C terminus of the heavy chain sand loss of the entire LC2 light chain. Western blot analysis confirmed production of a truncated heavy chain. (J:220153)
• 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: 1 strain available Cell Lines: 0 lines available
• Carrying any Map1a Mutation: 109 strains or lines available

References

• Original: J:220153 Liu Y, et al., Mutations in the Microtubule-Associated Protein 1A (Map1a) Gene Cause Purkinje Cell Degeneration. J Neurosci. 2015 Mar 18;35(11):4587-98
• All: 1 reference(s)