About   Help   FAQ
Chemically induced Allele Detail
Symbol: Alms1m2Btlr
Name: ALMS1, centrosome and basal body associated; mutation 2, Bruce Beutler
MGI ID: MGI:6197903
Synonyms: ares2
Gene: Alms1  Location: Chr6:85564513-85679735 bp, + strand  Genetic Position: Chr6, 37.48 cM
Alliance: Alms1m2Btlr page
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
Mutation detailsENU-induced C to T transition at base pair 85,677,990 (v38) on chromosome 6, or base pair 90,492 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 8,225 in the NM_145223.2 mRNA sequence in exon 16 of 23 total exons (c.8225C>T). The mutation results in substitution of glutamine 2,704 to a premature stop codon (p.Q2704*) in the ALMS1 protein. (J:264648)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Alms1 Mutation:  109 strains or lines available
Original:  J:264648 Turer E, et al., Mutagenetix entry for ares2. MGI Direct Data Submission. 2018;
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory