Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Map1am1J
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:	Map1am1J page

Strain of Origin:

C57BLKS/J-Npc1spm/J

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

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)