Alms1^m5Btlr
Chemically induced Allele Detail

Summary

• Symbol: Alms1^m5Btlr
• Name: ALMS1, centrosome and basal body associated; mutation 5, Bruce Beutler
• MGI ID: MGI:6269388
• Synonyms: earthquake
• Gene: Alms1 Location: Chr6:85564513-85679735 bp, + strand Genetic Position: Chr6, 37.48 cM
• Alliance: Alms1^m5Btlr 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 A to T transversion at base pair 85,628,735 (v38) on chromosome 6, or base pair 41,237 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 6,074 in the mRNA sequence NM_145223 within exon 10 of 23 total exons. The mutation results in substitution of lysine 1,987 for a premature stop codon (K1987*) in the ALMS1 protein. (J:267682)
• 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: 150 strains or lines available

References

• Original: J:267682 Zhang Z, et al., Mutagenetix entry for earthquake. MGI Direct Data Submission. 2018
• All: 1 reference(s)