Alms1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Alms1^m1Btlr
• Name: ALMS1, centrosome and basal body associated; mutation 1, Bruce Beutler
• MGI ID: MGI:5619129
• Synonyms: ares
• Gene: Alms1 Location: Chr6:85564513-85679735 bp, + strand Genetic Position: Chr6, 37.48 cM
• Alliance: Alms1^m1Btlr page

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 details: ENU mutagenesis induced a C to T transition at base pair 85,621,275 (v38) on chromosome 6, or base pair 33,779 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 3,197 in the mRNA sequence NM_145223 within exon 8 of 23 total exons. The mutated nucleotide converts glutamine 1028 of the ALMS1 protein to a stop codon. (J:218964)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 149 strains or lines available

References

• Original: J:218964 Chen Z, et al., Mutagenetix entry for ares. MGI Direct Data Submission. 2015
• All: 1 reference(s)