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Alms1m6Btlr
Chemically induced Allele Detail
Nomenclature
Symbol: Alms1m6Btlr
Name: ALMS1, centrosome and basal body associated; mutation 6, Bruce Beutler
MGI ID: MGI:6305831
Synonyms: gut_check
Gene: Alms1  Location: Chr6:85587531-85702753 bp, + strand  Genetic Position: Chr6, 37.48 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsA to T transversion at base pair 85,620,369(v38) on chromosome 6, or base pair 32,871 in the GenBank genomic regionNC_000072encodingAlms1. The mutation corresponds to residue 2,291 in the NM_145223 mRNA sequence in exon 8 of 23 total exons. The mutation results in substitution of arginine 726 for a premature stop codon (R726*) in the ALMS1 protein. (J:274969)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Alms1 Mutation:  12 strains or lines available
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4331
References
Original:  J:274969 Turer E, et al., Mutagenetix entry for gut_check. MGI Direct Data Submission. 2019;
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
11/05/2019
MGI 6.14
The Jackson Laboratory