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Map1am1J
Spontaneous Allele Detail
Nomenclature
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
Mutation
origin
Strain of Origin:  C57BLKS/J-Npc1spm/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structures
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:  76 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory