Alms1^m3Btlr
Chemically induced Allele Detail

Summary

• Symbol: Alms1^m3Btlr
• Name: ALMS1, centrosome and basal body associated; mutation 3, Bruce Beutler
• MGI ID: MGI:6197908
• Synonyms: fatty
• Gene: Alms1 Location: Chr6:85564513-85679735 bp, + strand Genetic Position: Chr6, 37.48 cM
• Alliance: Alms1^m3Btlr 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 85,627,934 (v38) on chromosome 6, or base pair 40,436 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 5,273 in the NM_145223.2 (c.5273C>T) mRNA sequence in exon 10 of 23 total exons. The mutation results in substitution of glutamine 1,720 to a premature stop codon (p.Q1720*) in the ALMS1 protein. (J:264649)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 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:264649 Prince L, et al., Mutagenetix entry for fatty. MGI Direct Data Submission. 2018
• All: 1 reference(s)