|Institutional Source||Beutler Lab|
|Gene Name||leucine rich repeat and sterile alpha motif containing 1|
|Essential gene?||Probably non essential (E-score: 0.099)|
|Stock #||R5472 (G1)|
|Chromosomal Location||32925216-32961614 bp(-) (GRCm38)|
|Type of Mutation||frame shift|
|DNA Base Change (assembly)||ACC to AC at 32945858 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000108825 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028132] [ENSMUST00000113200]|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mutant mice either heterozygous or homozygous for a gene trapped allele exhibit mild neuromuscular junction and axonal defects in the absence of a neuronal challenge, but show increased sensitivity to acrylamide-induced motor axon degeneration relative to control mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrsam1||
(F):5'- CTGCAGGTTCCTTTGTGACC -3'
(R):5'- GTTCTCCCTGAGGATTGCAG -3'
(F):5'- AGGTTCCTTTGTGACCTGGGG -3'
(R):5'- ATTGCAGCTCCTCAGAAGCTG -3'