Alms1^m4Btlr
Chemically induced Allele Detail

Summary

• Symbol: Alms1^m4Btlr
• Name: ALMS1, centrosome and basal body associated; mutation 4, Bruce Beutler
• MGI ID: MGI:6268762
• Synonyms: portly
• Gene: Alms1 Location: Chr6:85564513-85679735 bp, + strand Genetic Position: Chr6, 37.48 cM
• Alliance: Alms1^m4Btlr 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 T to C transition at base pair 85,619,712 (v38) on chromosome 6, or base pair 32,214 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 1,634 in the NM_145223 mRNA sequence in exon 8 of 23 total exons. The mutation results in a serine to proline substitution at amino acid 507 (S507P) in the ALMS1 protein. (J:267551)
• 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:267551 Zhang Z, et al., Mutagenetix entry for portly. MGI Direct Data Submission. 2018
• All: 1 reference(s)