Alms1^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Alms1^m2Btlr
• 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: Alms1^m2Btlr 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-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

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: 149 strains or lines available

References

• Original: J:264648 Turer E, et al., Mutagenetix entry for ares2. MGI Direct Data Submission. 2018
• All: 1 reference(s)