Alms1^m6Btlr
Chemically induced Allele Detail

Summary

• Symbol: Alms1^m6Btlr
• Name: ALMS1, centrosome and basal body associated; mutation 6, Bruce Beutler
• MGI ID: MGI:6305831
• Synonyms: gut_check
• Gene: Alms1 Location: Chr6:85564513-85679735 bp, + strand Genetic Position: Chr6, 37.48 cM
• Alliance: Alms1^m6Btlr 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: A 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

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: 151 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)